485 results on '"Capellari S"'
Search Results
2. Risk of SARS-CoV-2 infection, hospitalization and death for COVID-19 in people with Parkinson's disease or parkinsonism over a 15-month period: a cohort study
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Zenesini C., Vignatelli L., Belotti L. M. B., Baccari F., Calandra Buonaura G., Cortelli P., Descovich C., Giannini G., Guaraldi P., Guarino M., Loddo G., Pantieri R., Perlangeli V., Scaglione C., Stivanello E., Trombetti S., D'Alessandro R., Baldin E., Nonino F., Azzoni E., Baschieri F., Bellan M., Bettelli L., Bonavina G., Capellari S., Cevoli S., de Carolis P., Di Diodoro D., Fabbri G., Ferrara R., Gabellini A. S., Lucchi F., Mostacci B., Procaccianti G., Rinaldi R., Rizzo G., Sacquegna T., Samoggia G., Tempestini A., Trocino C., Zenesini C., Vignatelli L., Belotti L.M.B., Baccari F., Calandra Buonaura G., Cortelli P., Descovich C., Giannini G., Guaraldi P., Guarino M., Loddo G., Pantieri R., Perlangeli V., Scaglione C., Stivanello E., Trombetti S., D'Alessandro R., Baldin E., Nonino F., Azzoni E., Baschieri F., Bellan M., Bettelli L., Bonavina G., Capellari S., Cevoli S., de Carolis P., Di Diodoro D., Fabbri G., Ferrara R., Gabellini A.S., Lucchi F., Mostacci B., Procaccianti G., Rinaldi R., Rizzo G., Sacquegna T., Samoggia G., Tempestini A., and Trocino C.
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Parkinson disease ,Neurology ,COVID-19 ,Neurology (clinical) ,frail elderly ,parkinsonism ,cohort studie - Abstract
Background and purpose: The patterns of long-term risk of SARS-CoV-2 infection, hospitalization for COVID-19, and related death are uncertain in people with Parkinson disease (PD) or parkinsonism (PS). The aim of the study was to quantify these risks compared to a control population cohort, during the period March 2020–May 2021, in Bologna, Northern Italy. Methods: ParkLink Bologna cohort (759 PD, 192 PS) and controls (9226) anonymously matched (ratio=1:10) for sex, age, district, and comorbidity were included. Data were analysed in the whole period and in the two different pandemic waves (March–May 2020 and October 2020–May 2021). Results: Adjusted hazard ratio of SARS-CoV-2 infection was 1.3 (95% confidence interval [CI] = 1.04–1.7) in PD and 1.9 (95% CI=1.3–2.8) in PS compared to the controls. The trend was detected in both the pandemic waves. Adjusted hazard ratio of hospitalization for COVID-19 was 1.1 (95% CI=0.8–1.7) in PD and 1.8 (95% CI=0.97–3.1) in PS. A higher risk of hospital admission was detected in PS only in the first wave. The 30-day mortality risk after hospitalization was higher (p= 0.048) in PS (58%) than in PD (19%) and controls (26%). Conclusions: Compared with controls, after adjustment for key covariates, people with PD and PS showed a higher risk of SARS-CoV-2 infection throughout the first 15 months of the pandemic. COVID-19 hospitalization risk was increased only in people with PS and only during the first wave. This group of patients was burdened by a very high risk of death after infection and hospitalization.
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- 2022
3. Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson's disease patients
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Zago E., Dal Molin A., Dimitri G. M., Xumerle L., Pirazzini C., Bacalini M. G., Maturo M. G., Azevedo T., Spasov S., Gomez-Garre P., Perinan M. T., Jesus S., Baldelli L., Sambati L., Calandra Buonaura G., Garagnani P., Provini F., Cortelli P., Mir P., Trenkwalder C., Mollenhauer B., Franceschi C., Lio P., Nardini C., Adarmes-Gomez A., Bartoletti-Stella A., Bhatia K. P., Marta B. -T., Boninsegna C., Broli M., Dolores B. -R., Calandra-Buonaura G., Capellari S., Carrion-Claro M., Cilea R., Clayton R., Molin A. D., De Luca S., De Massis P., Doykov I., Escuela-Martin R., Fabbri G., Gabellini A., Giuliani C., Guaraldi P., Hagg S., Hallqvist J., Halsband C., Heywood W., Houlden H., Huertas I., Jylhava J., Labrador-Espinosa M. A., Licari C., Luchinat C., Macias D., Macri S., Magrinelli F., Rodriguez J. F. M., Massimo D., Mengozzi G., Meoni G., Mignani F., Milazzo M., Mills K., Nassetti S. A., Pedersen N. L., Perinan-Tocino M. T., Ravaioli F., Sala C., Scaglione C. L. M., Schade S., Schreglmann S., Strom S., Tejera-Parrado C., Tenori L., Turano P., Valzania F., Ortega R. V., Williams D., Apollo - University of Cambridge Repository, Zago E., Dal Molin A., Dimitri G.M., Xumerle L., Pirazzini C., Bacalini M.G., Maturo M.G., Azevedo T., Spasov S., Gomez-Garre P., Perinan M.T., Jesus S., Baldelli L., Sambati L., Calandra Buonaura G., Garagnani P., Provini F., Cortelli P., Mir P., Trenkwalder C., Mollenhauer B., Franceschi C., Lio P., Nardini C., Adarmes-Gomez A., Bartoletti-Stella A., Bhatia K.P., Marta B.-T., Boninsegna C., Broli M., Dolores B.-R., Calandra-Buonaura G., Capellari S., Carrion-Claro M., Cilea R., Clayton R., Molin A.D., De Luca S., De Massis P., Doykov I., Escuela-Martin R., Fabbri G., Gabellini A., Giuliani C., Guaraldi P., Hagg S., Hallqvist J., Halsband C., Heywood W., Houlden H., Huertas I., Jylhava J., Labrador-Espinosa M.A., Licari C., Luchinat C., Macias D., Macri S., Magrinelli F., Rodriguez J.F.M., Massimo D., Mengozzi G., Meoni G., Mignani F., Milazzo M., Mills K., Nassetti S.A., Pedersen N.L., Perinan-Tocino M.T., Ravaioli F., Sala C., Scaglione C.L.M., Schade S., Schreglmann S., Strom S., Tejera-Parrado C., Tenori L., Turano P., Valzania F., Ortega R.V., and Williams D.
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Male ,Aging ,Molecular biology ,Science ,Immunology ,Article ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Medical research ,Humans ,Parkinson ,030304 developmental biology ,Aged ,0303 health sciences ,Multidisciplinary ,Biological techniques ,Parkinson Disease ,Middle Aged ,3. Good health ,nervous system diseases ,Computational biology and bioinformatics ,MicroRNAs ,Neurology ,ageing ,Medicine ,Female ,030217 neurology & neurosurgery ,Biomarkers - Abstract
Advanced age represents one of the major risk factors for Parkinson's Disease. Recent biomedical studies posit a role for microRNAs, also known to be remodelled during ageing. However, the relationship between microRNA remodelling and ageing in Parkinson's Disease, has not been fully elucidated. Therefore, the aim of the present study is to unravel the relevance of microRNAs as biomarkers of Parkinson's Disease within the ageing framework. We employed Next Generation Sequencing to profile serum microRNAs from samples informative for Parkinson's Disease (recently diagnosed, drug-naïve) and healthy ageing (centenarians) plus healthy controls, age-matched with Parkinson's Disease patients. Potential microRNA candidates markers, emerging from the combination of differential expression and network analyses, were further validated in an independent cohort including both drug-naïve and advanced Parkinson's Disease patients, and healthy siblings of Parkinson's Disease patients at higher genetic risk for developing the disease. While we did not find evidences of microRNAs co-regulated in Parkinson's Disease and ageing, we report that hsa-miR-144-3p is consistently down-regulated in early Parkinson's Disease patients. Moreover, interestingly, functional analysis revealed that hsa-miR-144-3p is involved in the regulation of coagulation, a process known to be altered in Parkinson's Disease. Our results consistently show the down-regulation of hsa-mir144-3p in early Parkinson's Disease, robustly confirmed across a variety of analytical and experimental analyses. These promising results ask for further research to unveil the functional details of the involvement of hsa-mir144-3p in Parkinson's Disease., This work was supported by the Horizon 2020 Framework Programme (Grant number 634821, PROPAG-AGING).
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- 2022
4. Skin α-synuclein deposits differ in clinical variants of synucleinopathy: an in vivo study
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Donadio, V., Incensi, A., El-Agnaf, O., Rizzo, G., Vaikath, N., Del Sorbo, F., Scaglione, C., Capellari, S., Elia, A., Stanzani Maserati, M., Pantieri, R., and Liguori, R.
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- 2018
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5. Additional file 1 of Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases
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Tarozzi, M., Bartoletti-Stella, A., Dall���Olio, D., Matteuzzi, T., Baiardi, S., Parchi, P., Castellani, G., and Capellari, S.
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Additional file 1. Supplementary material and results: Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases.
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- 2022
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6. Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients
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Zago, E., Dal Molin, A., Dimitri, G. M., Xumerle, L., Pirazzini, C., Bacalini, M. G., Maturo, M. G., Azevedo, T., Spasov, S., Gomez-Garre, P., Perinan, M. T., Jesus, S., Baldelli, L., Sambati, L., Calandra-Buonaura, G., Garagnani, P., Provini, F., Cortelli, P., Mir, P., Trenkwalder, C., Mollenhauer, B., Franceschi, C., Lio, P., Nardini, C., Adarmes-Gomez, A., Bartoletti-Stella, A., Bhatia, K. P., Marta, B. -T., Boninsegna, C., Broli, M., Dolores, B. -R., Capellari, S., Carrion-Claro, M., Cilea, R., Clayton, R., Molin, A. D., De Luca, S., De Massis, P., Doykov, I., Escuela-Martin, R., Fabbri, G., Gabellini, A., Giuliani, C., Guaraldi, P., Hagg, S., Hallqvist, J., Halsband, C., Heywood, W., Houlden, H., Huertas, I., Jylhava, J., Labrador-Espinosa, M. A., Licari, C., Luchinat, C., Macias, D., Macri, S., Magrinelli, F., Rodriguez, J. F. M., Massimo, D., Mengozzi, G., Meoni, G., Mignani, F., Milazzo, M., Mills, K., Nassetti, S. A., Pedersen, N. L., Perinan-Tocino, M. T., Ravaioli, F., Sala, C., Scaglione, C. L. M., Schade, S., Schreglmann, S., Strom, S., Tejera-Parrado, C., Tenori, L., Turano, P., Valzania, F., Ortega, R. V., and Williams, D.
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hsa‑miR‑144‑3p ,serum ,Parkinson’s disease patients - Published
- 2022
7. The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark): study design and population
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Calandra Buonaura G., Sambati L., Baschieri F., Vitiello M., Contin M., Tonon C., Capellari S., Provini F., Cortelli P., Barletta G., Caltabiano G., Cecere A., Gallassi R., Giannini G., Guaraldi P., Lodi R., Lopane G., Manners D. N., Martinelli P., Miele F., Mignani F., Mohamed S., Nassetti S., Oppi F., Parchi P., Pierangeli G., Poda R., Scaglione C., Solieri L., Stanzani Maserati M., Testa C., Calandra Buonaura G., Sambati L., Baschieri F., Vitiello M., Contin M., Tonon C., Capellari S., Provini F., Cortelli P., Barletta G., Caltabiano G., Cecere A., Gallassi R., Giannini G., Guaraldi P., Lodi R., Lopane G., Manners D.N., Martinelli P., Miele F., Mignani F., Mohamed S., Nassetti S., Oppi F., Parchi P., Pierangeli G., Poda R., Scaglione C., Solieri L., Stanzani Maserati M., and Testa C.
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0301 basic medicine ,medicine.medical_specialty ,Pediatrics ,Motor symptoms ,Neurology ,Parkinson's disease ,Atypical parkinsonisms ,Population ,Non-motor symptoms ,Dermatology ,Disease ,Non-motor symptom ,Levodopa ,03 medical and health sciences ,0302 clinical medicine ,Parkinsonian Disorders ,Motor symptom ,medicine ,Humans ,Prospective Studies ,Prospective cohort study ,education ,Aged ,education.field_of_study ,business.industry ,Parkinsonism ,Neurodegenerative Diseases ,Parkinson Disease ,Study design ,General Medicine ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,030104 developmental biology ,Atypical parkinsonism ,Parkinson’s disease ,Original Article ,Neurology (clinical) ,Neurosurgery ,business ,Cohort study ,030217 neurology & neurosurgery - Abstract
Objective The Bologna motor and non-motor prospective study on parkinsonism at onset (BoProPark) was designed to prospectively characterize motor and non-motor features in patients with a progressive neurodegenerative disease starting with parkinsonism since early disease stage and to investigate their diagnostic and prognostic role in the differential diagnosis of Parkinson’s disease from atypical parkinsonisms. The aim of this paper is to describe the method and population of the BoProPark study. Methods Patients referred to our Department with parkinsonism within 3 years from motor onset were recruited. Secondary causes of parkinsonism were excluded. Each patient underwent a comprehensive evaluation of motor and non-motor symptoms, assessed by means of quantitative, objective instrumental tests in addition to scales and questionnaires. The evaluations were performed at enrolment (T0), after 16 months (T1) and after 5 years (T2). Diagnoses were made according to consensus criteria. Results We recruited 150 patients, with mean age 61.5 ± 9.8 years and mean disease duration 20 ± 9 months. H&Y stage was 1 in 47.3% and 2 in 46.7% of cases. Mean UPDRS-III was 17.7 ± 9.2. Fifty-four patients were on dopaminergic treatment with median levodopa equivalent daily dose (LEDD) of 200 mg. Conclusions We expect that the prospective nature of the BoProPark study as well as the comprehensive, instrumental evaluation of motor and non-motor symptoms in patients with parkinsonism will provide important new insights for both clinical practice and research. Our data could be used for comparison with other cohorts and shared with national and international collaborators to develop new innovative projects.
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- 2020
8. Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology
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Jansen, C., van Swieten, J.C., Capellari, S., Strammiello, R., Parchi, P., and Rozemuller, A.J.M.
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Creutzfeldt-Jakob disease -- Genetic aspects ,Creutzfeldt-Jakob disease -- Case studies ,Prions -- Genetic aspects ,Prions -- Research ,Health ,Psychology and mental health - Published
- 2009
9. An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia
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Iaccarino, L, Presotto, L, Bettinardi, V, Gianolli, L, Roiter, I, Capellari, S, Parchi, P, Cortelli, P, Perani, D, Iaccarino L., Presotto L., Bettinardi V., Gianolli L., Roiter I., Capellari S., Parchi P., Cortelli P., Perani D., Iaccarino, L, Presotto, L, Bettinardi, V, Gianolli, L, Roiter, I, Capellari, S, Parchi, P, Cortelli, P, Perani, D, Iaccarino L., Presotto L., Bettinardi V., Gianolli L., Roiter I., Capellari S., Parchi P., Cortelli P., and Perani D.
- Abstract
Objective: Postmortem studies reported significant microglia activation in association with neuronal apoptosis in Fatal Familial Insomnia (FFI), indicating a specific glial response, but negative evidence also exists. An in vivo study of local immune responses over FFI natural course may contribute to the understanding of the underlying pathogenesis. Methods: We included eight presymptomatic subjects (mean ± SD age:44.13 ± 3.83 years) carrying the pathogenic D178N-129met FFI mutation, one symptomatic patient (male, 45 yrs. old), and nine healthy controls (HC) (mean ± SD age: 44.00 ± 11.10 years.) for comparisons. 11C-(R)-PK11195 PET allowed the measurement of Translocator Protein (TSPO) overexpression, indexing microglia activation. A clustering algorithm was adopted to define subject-specific reference regions. Voxel-wise statistical analyses were performed on 11C-(R)-PK11195 binding potential (BP) images both at the group and individual level. Results: The D178N-129met/val FFI patient showed significant 11C-(R)-PK11195 BP increases in the midbrain, cerebellum, anterior thalamus, anterior cingulate cortex, orbitofrontal cortex, and anterior insula, bilaterally. Similar TSPO increases, but limited to limbic structures, were observed in four out of eight presymptomatic carriers. The only carrier with the codon 129met/val polymorphism was the only one showing an additional TSPO increase in the anterior thalamus. Interpretation: In comparison to nonprion neurodegenerative diseases, the observed lack of a diffuse brain TSPO overexpression in preclinical and the clinical FFI cases suggests the presence of a different microglia response. The involvement of limbic structures might indicate a role for microglia activation in these key pathologic regions, known to show the most significant neuronal loss and functional deafferentation in FFI.
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- 2018
10. Anterior callosal angle correlates with gait impairment and fall risk in iNPH patients
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Mantovani, P., Giannini, G., Milletti, D., Cevoli, S., Valsecchi, N., Gramegna, L. L., Albini-Riccioli, L., Sturiale, C., Cortelli, P., Lanzino, G., Elder, B. D., Palandri, G., Agati, R., Aspide, R., Calandra-Buonaura, G., Capellari, S., Chiari, L., Ferrari, A., Magelli, E., Merola, M., Oppi, F., Parchi, P., Pirina, A., Piserchia, V. A., Sambati, L., Mantovani, Paolo, Giannini, Giulia, Milletti, David, Cevoli, Sabina, Valsecchi, Nicola, Gramegna, Laura Ludovica, Albini-Riccioli, Luca, Sturiale, Carmelo, Cortelli, Pietro, Lanzino, Giuseppe, Elder, Benjamin D, and Palandri, Giorgio
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Male ,medicine.medical_specialty ,Neurology ,Idiopathic normal pressure hydrocephalu ,Corpus callosum ,Ventriculoperitoneal Shunt ,030218 nuclear medicine & medical imaging ,Corpus Callosum ,03 medical and health sciences ,0302 clinical medicine ,Postoperative Complications ,Idiopathic normal pressure hydrocephalus ,Internal medicine ,medicine ,Humans ,Anterior callosal angle ,Gait impairment ,Tinetti POMA scale ,Accidental Falls ,Aged ,Female ,Hydrocephalus, Normal Pressure ,Magnetic Resonance Imaging ,Middle Aged ,Gait ,Normal Pressure ,Neuroradiology ,medicine.diagnostic_test ,business.industry ,Tinetti test ,Interventional radiology ,Magnetic resonance imaging ,eye diseases ,stomatognathic diseases ,Cardiology ,Surgery ,Neurology (clinical) ,Neurosurgery ,business ,030217 neurology & neurosurgery ,Hydrocephalus - Abstract
Background In idiopathic normal pressure hydrocephalus (iNPH), gait and balance impairment is the most frequent symptom, and it is often associated with a higher fall risk. In a prior study, the anterior callosal angle (ACA) was validated as a reliable marker to discriminate iNPH from Alzheimer's disease and healthy controls. However, the potential correlation between the ACA with clinical symptoms and functional outcomes has not been assessed. The objective of this study is to determine the utility of the ACA in predicting gait improvement after ventriculoperitoneal (VP) shunting.Methods Patients with probable iNPH who underwent shunt placement at a single institution were prospectively enrolled from May 2015 to May 2019. Patients were assessed preoperatively and at 6 months postoperatively following a standard clinical and MRI protocol. Callosal angle (CA) and ACA were calculated from 3 T MRI preoperatively and at 6 months postoperatively. CA and ACA were tested for correlation with clinical scores.Results Forty-seven patients with probable INPH who completed 6-month postoperative follow-up were enrolled in the study. Baseline ACA was significantly correlated with preoperative fall risk, gait, and balance impairment assessed with Tinetti POMA scale. Additionally, baseline ACA differentiated patients who experienced improvement at Tinetti POMA scale after surgery.Conclusions The baseline ACA is a useful neuroradiological marker to differentiate patients by fall risk and has significant correlation with the improvement in gait and balance impairment following surgery. This study demonstrated that the ACA may be a complementary tool to the CA in predicting shunt responsiveness in iNPH.
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- 2020
11. Correction to: Ultrasensitive RT-QuIC assay with high sensitivity and specificity for Lewy body-associated synucleinopathies (Acta Neuropathologica, (2020), 140, 1, (49-62), 10.1007/s00401-020-02160-8)
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Rossi, M., Candelise, N., Baiardi, S., Capellari, S., Giannini, G., Orru, C. D., Antelmi, E., Mammana, A., Hughson, A. G., Calandra-Buonaura, G., Ladogana, A., Plazzi, G., Cortelli, P., Caughey, B., and Parchi, P.
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- 2020
12. Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?
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La Morgia, C., Barboni, P., Rizzo, G., Carbonelli, M., Savini, G., Scaglione, C., Capellari, S., Bonazza, S., Giannoccaro, M. P., Calandra-Buonaura, G., Liguori, R., Cortelli, P., Martinelli, P., Baruzzi, A., and Carelli, V.
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- 2013
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13. Divergent clinical and neuropathological phenotype in a Gerstmann–Sträussler–Scheinker P102L family
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Popova, S. N., Tarvainen, I., Capellari, S., Parchi, P., Hannikainen, P., Pirinen, E., Haapasalo, H., and Alafuzoff, I.
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- 2012
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14. The first case of fatal familial insomnia (FFI) in the Netherlands: a patient from Egyptian descent with concurrent four repeat tau deposits
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Jansen, C., Parchi, P., Jelles, B., Gouw, A. A., Beunders, G., van Spaendonk, R. M. L., van de Kamp, J. M., Lemstra, A. W., Capellari, S., and Rozemuller, A. J. M.
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- 2011
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15. “Agrypnia excitata” in a case of sporadic Creutzfeldt–Jakob disease VV2
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La Morgia, C, Parchi, P, Capellari, S, Lodi, R, Tonon, C, Rinaldi, R, Mondini, S, and Cirignotta, F
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- 2009
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16. Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt–Jakob disease
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Ragno, M., Scarcella, M. G., Cacchiò, G., Capellari, S., Di Marzio, F., Parchi, P., and Trojano, L.
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- 2009
17. Identification of symbol digit modality test score extremes in Huntington's disease
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Braisch, U, Muche, R, Rothenbacher, D, Landwehrmeyer, GB, Long, JD, Bentivoglio, AR, Biunno, I, Bonelli, RM, Dunnett, SB, Illmann, T, Levey, J, Ramos-Arroyo, M, Nielsen, JE, Paivarinta, M, Sebastian, AR, Tabrizi, SJ, Vandenberghe, W, Uhrova, T, Come, A, Garde, MB, Betz, S, Capodarca, S, Wildson, SC, da Silva, V, Di Renzo, M, Finisterra, M, Genoves, C, Gilling, M, Handley, OJ, Hvalstedt, C, Koppers, K, Lamanna, C, Laura, M, Descals, AM, Monza, D, Mutze, L, Oehmen, M, Padieu, H, Paterski, L, Koivisto, SP, Rindal, B, Roren, N, Sasinkova, P, Seliverstov, Y, Timewell, E, Cubillo, PT, van Walsem, MR, Witjes-Ane, MN, Yudina, E, Zielonka, E, Zinzi, P, Braunwarth, EM, Brugger, F, Buratti, L, Hametner, EM, Hepperger, C, Holas, C, Hotter, A, Hussl, A, Larcher, B, Mahlknecht, P, Muller, C, Pinter, B, Poewe, W, Seppi, K, Sprenger, F, Wenning, G, Dupuis, M, Minet, C, Ribai, P, Van Paemel, D, Verellen-Dumoulin, C, Klempir, J, Majerova, V, Roth, J, Babiloni, B, Debruxelles, S, Duche, C, Goizet, C, Jameau, L, Lafoucriere, D, Spampinato, U, Bachoud-Levi, AC, Boisse, MF, de Langavant, LC, Lemoine, L, Morgado, G, Youssov, K, Annic, A, Barthelemy, R, De Bruycker, C, Cabaret, M, Carette, AS, Carriere, N, Decorte, E, Defebvre, L, Delliaux, M, Delval, A, Depelchin, A, Destee, A, Dewulf-Pasz, N, Dondaine, T, Dugauquier, F, Dujardin, K, Lemaire, MH, Manouvrier, S, Peter, M, Plomhause, L, Sablonniere, B, Simonin, C, Tard, C, Thibault-Tanchou, S, Vuillaume, I, Bellonet, M, Benoit, A, Blin, S, Courtin, F, Duru, C, Fasquel, V, Godefroy, O, Krystkowiak, P, Mantaux, B, Roussel, M, Tir, M, Schuler, B, Wannepain, S, Azulay, JP, Chabot, C, Delfini, M, Eusebio, A, Fluchere, F, Grosjean, H, Mundler, L, Nowak, M, Bioux, S, Bliaux, E, Girard, C, Guyant-Marechal, L, Hannequin, D, Hannier, V, Jourdain, S, Maltete, D, Pouliquen, D, Blondeau, L, Calvas, F, Cheriet, S, Delabaere, H, Demonet, JF, Pariente, J, Pierre, M, Beuth, M, Gelderblom, H, Priller, J, Pruss, H, Spruth, E, Thiel, S, Ellrichmannberlin, G, Herrmann, L, Hoffmann, R, Kaminski, B, Saft, C, Bosredon, C, Hunger, U, Lohle, M, Maass, A, Ossig, C, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Kohl, Z, Kozay, C, Ullah, J, Winkler, J, Bergmann, U, Boringer, R, Capetian, P, Kammel, G, Lambeck, J, Meier, S, Rijntjes, M, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Heinicke, W, Hidding, U, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Francis, F, Gayde-Stephan, S, Gorzolla, H, Kramer, B, Minschke, R, Schrader, C, Tacik, P, Longinus, B, Lusebrink, A, Muhlau, M, Peinemann, A, Stadtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Gopfert, N, Holzner, E, Lange, H, Reilmann, R, Rohm, S, Rumpf, S, Sass, C, Schepers, S, Weber, N, Barth, K, Buck, A, Connemann, J, Ecker, D, Geitner, C, Held, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Lewerenz, J, Nepper, S, Niess, A, Orth, M, Schneider, A, Schwenk, D, Sussmuth, S, Trautmann, S, Weydt, P, Klebe, S, Musacchio, T, Leypold, C, Noth, K, Cormio, C, de Tommaso, M, Franco, G, Sciruicchio, V, Serpino, C, Calandra-Buonaura, G, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Sambati, L, Scaglione, C, Maserati, MS, Agosti, C, Barlati, S, Compostella, S, Marchina, E, Padovani, A, Bertini, E, Ghelli, E, Ginestroni, A, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Ferrandes, G, Mandich, P, Marchese, R, Tamburini, T, Baake, V, van den Bogaard, SJA, Bos, R, Dumas, EM, t'Hart, EP, Kampstra, A, Roos, RAC, Schoonderbeek, A, Aaserud, O, Bjorgo, K, Borgeod, N, Dramstad, E, Fannemel, M, Frich, JC, Gorvell, PF, Heiberg, A, Lorentzen, E, Retterstol, L, Rosby, O, Sikiric, A, Stokke, B, van Walsem, M, Wehus, R, Bjornevoll, I, Sando, SB, Haug, MG, Storseth, HH, Arntsen, V, Dziadkiewicz, A, Konkel, A, Narozanska, E, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Arkuszewski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Nska-Myga, BJ, Kaczmarczyk, A, Klodowska-Duda, G, Opala, G, Stompel, D, Banaszkiewicz, K, Bocwinska, D, Bojakowska-Jaremek, K, Dec, M, Grabska, N, Krawczyk, GM, Kubowicz, E, Malec-Litwinowicz, M, Rudzinska, M, Stenwak, A, Szczudlik, A, Szczygiel, E, Wojcik, M, Wasielewska, A, Bryl, JAA, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Sniewski, BW, Zielonka, D, Gogol, A, Janik, P, Jamrozik, Z, Kaminska, A, Kwiecinski, H, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Stepniak, I, Sulek, A, Witkowski, G, Zaremba, J, Zdzienicka, E, Ziora-Jakutowicz, K, Januario, C, Julio, F, Guedes, LC, Coelho, M, Finisterra, AM, Ferreira, JJ, Mestre, T, Mendes, T, Rosa, MM, Valadas, A, Kopishinskaya, S, Korotysh, M, Herrera, CD, Moreno, PG, Bas, J, Busquets, N, Calopa, M, Classen, SJ, Dedicha, NR, Buongiorno, MT, Maria, ADS, Munoz, E, Santacruz, P, Barbera, MA, Pardo, SA, Guia, DB, Calzado, N, Hernanz, LC, Diaz-Zorita, JPT, Catena, JL, Ferrer, PQ, Carruesco, GT, Robert, MF, Viladrich, CM, Roca, E, Idiago, JMR, Riballo, AV, Campolongo, A, de Bobadilla, RF, Bojarsky, JK, Martinez-Horta, S, Pagonabarraga, J, Perez, JP, Ribosa, R, Villa, C, Gil, MAA, Corrales, KB, Esteban, JCG, Gonzalez, A, Merino, BT, Cubo, E, Polo, CG, Mariscal, N, Romero, SG, Arbelo, JM, de Molina, RM, Martin, I, Perianez, JM, Udaeta, B, Alonso-Frech, F, Frades, B, Villanueva, MA, Sevilla, MAZ, Frech, FA, Fenollar, MD, Garcia, RGR, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Barral, VM, Ruiz, PJG, Garcia, A, Lopez, RG, Barcenas, AH, Martinez-Descals, A, Martin, VP, Martinez, NR, Artiga, MJS, Sanchez, V, Pueyo, A, Gonzalez, S, Guisasola, LM, Ribacoba, MPPR, Salvador, C, Lozano, PS, Caldentey, JG, Ramirez, IL, Arques, PN, Lopera, MR, Pastor, BV, Gaston, I, Garcia-Amigot, F, Martinez-Jaurrieta, MD, Ramos-Arroyo, MA, Carrillo, F, Redondo, MTC, Mir, P, Gonzalez, LV, Moreno, JMG, Lucena, CM, Pena, JC, Redondo, L, Sanchez, VS, Fernandez, CM, Mata, MP, Lemos, MDR, Bosca, M, Burguera, JA, Vilaplana, FCBCP, Solis, P, Figuerola, BJ, Palanca, PM, Berglund, P, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Linnsand, P, Neleborn-Lingefjard, L, Wahlstrom, J, Palhagen, S, Svenningsson, P, Paucar, M, Wallden, T, Ekwall, C, Goller, ML, Sundblom, J, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jung, H, Petersen, J, Auer, M, Mihaylova, V, Vernon, N, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Piedad, J, Rickards, H, Wright, J, Pallett, A, Coulthard, E, Gethin, L, Hayward, B, Sieradzan, K, Wright, A, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Price, K, Townhill, J, Rosser, A, Edwards, M, Ho, C, McGill, M, Porteous, M, Pearson, P, Harrower, T, Irvine, S, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Deith, C, Ireland, J, Ritchie, S, Andrew, A, Frost, J, Noad, R, Cosgrove, J, Gallantree, D, Hamer, S, Hobson, E, Jamieson, S, Kraus, A, Longthorpe, M, Markova, I, Musgrave, H, Peacy, C, Raman, A, Rowett, L, Toscano, J, Wild, S, Yardumian, P, Clayton, C, Dipple, H, Freire-Patino, D, Hallam, C, Middleton, J, Alusi, S, Davies, R, Foy, K, Gerrans, E, Leggett, H, Pate, L, Anjum, U, Coebergh, J, Eddy, C, McEntagart, M, Patton, M, Peterson, M, Rose, S, Andrews, T, Brown, S, Bruno, S, Doherty, K, Golding, C, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington-Jones, L, Rogers, D, Sollom, A, Snowden, J, Stopford, C, Thompson, J, Tinkler, P, Trender-Gerhard, I, Verstraelen, N, Westmoreland, L, Cass, G, Davidson, L, Davison, J, Fullerton, N, Holmes, K, Komati, S, McDonnell, S, Mohammed, Z, Morgan, K, Savage, L, Singh, B, Wood, J, Chu, E, Knight, C, O'Neill, M, Das Purkayastha, D, Nemeth, AH, Siuda, G, Valentine, R, Dixon, K, Armstrong, R, Harrison, D, Hughes, M, Large, S, Donovan, JO, Palmer, A, Parkinson, A, Soltysiak, B, Timings, L, Williams, J, Burn, J, Weekes, R, Craven, J, Bailey, W, Coleman, C, Haig-Brown, D, Simpson, S, Hare, M, Majeed, T, Bandmann, O, Bradbury, A, Fairtlough, H, Fillingham, K, Foustanos, I, Gill, P, Kazoka, M, Nevitt, L, Peppa, N, Quarrell, O, Taylor, C, Tidswell, K, O'Donovan, K, Agarwal, V, Anderson, M, Gunner, K, Harris, K, Hayward, E, Heywood, M, Keys, L, Kipps, C, MacKinnon, L, Smalley, S, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M, Tan, L, Burgunder, JM, Lau, PN, Pica, E, Shoulson, I, Gusella, JG, Antonijevic, I, vankammen, D, Foroud, T, Warner, J, Giuliano, J, Vetter, L, Marshall, F, Marder, K, Frucht, S, Moskowitz, C, Clouse, R, Wasserman, P, Shannon, K, Jaglin, J, Jankovic, J, Palao, A, Harrison, M, Singer, C, Quesada, M, Hersch, S, Rosas, D, Tanev, K, Malarick, K, Colcher, A, Sanchez-Ramos, J, Kostyk, S, Paulsen, J, Perlmutter, J, Tabbal, S, Ross, C, Dorsey, R, Nucifora, F, Dubinsky, R, Dubinsky, H, Suchowersky, O, Klimek, ML, Jones, R, Morgan, J, Mohlo, E, Kang, U, Agarwal, P, Factor, S, Jennings, D, Higgins, D, Adams, J, Frank, S, Saint-Hilaire, M, Diggin, M, Furtado, S, Walker, F, O'Neill, C, Quaid, K, LeDoux, M, Raymond, L, Leavitt, B, Decolongon, J, Perlman, S, Peavy, G, Goldstein, J, Kumar, R, McCusker, E, Griffith, J, Loy, C, Wheelock, V, Tempkin, T, Martin, A, Nance, M, Mallonee, W, Suter, G, Revilla, F, Gartner, M, Drazinic, C, Fitzpatrick, MJ, Panisset, M, Duff, K, Scott, B, Weiner, W, Robottom, B, Chiu, E, Yastrubetskaya, O, Churchyard, A, Greenamyre, TJ, Oakes, D, Beck, C, Robertson, S, Eaton, K, Lindsay, P, Deuel, L, MacDonald, M, Hickey, C, Muratori, L, Leserman, A, Doucette, N, Uc, E, Rodnitzky, R, Vik, S, Davis, R, Dietrich, S, Segro, V, Erickson, D, Hunt, V, Lucarelli, N, Broyles, J, Delarosa, J, Louis, E, Panegyres, P, Schmidt, A, Barton, S, Sperin, E, Testa, C, Thiede, F, Zauber, SE, McInnis, R, Welsh, C, Wesson, M, Coleman, A, and European Commission
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,COHORT ,Cox hazard model ,quantile regression ,REGISTRY ,symbol digit modalities test ,Genotype ,Neuropsychological Tests ,Cohort Studies ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Cognition ,0302 clinical medicine ,Huntington's disease ,Rating scale ,mental disorders ,medicine ,Humans ,Verbal fluency test ,Longitudinal Studies ,Genetics (clinical) ,Proportional Hazards Models ,030304 developmental biology ,0303 health sciences ,Proportional hazards model ,business.industry ,Reproducibility of Results ,Middle Aged ,medicine.disease ,nervous system diseases ,Psychiatry and Mental health ,Huntington Disease ,Phenotype ,Test score ,Cohort ,Disease Progression ,Female ,Observational study ,business ,030217 neurology & neurosurgery ,Stroop effect ,Clinical psychology - Abstract
REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group., Studying individuals with extreme phenotypes could facilitate the understanding of disease modification by genetic or environmental factors. Our aim was to identify Huntington's disease (HD) patients with extreme symbol digit modality test (SDMT) scores. We first examined in HD the contribution of cognitive measures of the Unified Huntington's Disease Rating Scale (UHDRS) in predicting clinical endpoints. The language-independent SDMT was used to identify patients performing very well or very poorly relative to their CAG and age cohort. We used data from REGISTRY and COHORT observational study participants (5,603 HD participants with CAG repeats above 39 with 13,868 visits) and of 1,006 healthy volunteers (with 2,241 visits), included to identify natural aging and education effects on cognitive measures. Separate Cox proportional hazards models with CAG, age at study entry, education, sex, UHDRS total motor score and cognitive (SDMT, verbal fluency, Stroop tests) scores as covariates were used to predict clinical endpoints. Quantile regression for longitudinal language-independent SDMT data was used for boundary (2.5% and 97.5% quantiles) estimation and extreme score analyses stratified by age, education, and CAG repeat length. Ten percent of HD participants had an extreme SDMT phenotype for at least one visit. In contrast, only about 3% of participants were consistent SDMT extremes at two or more visits. The thresholds for the one-visit and two-visit extremes can be used to classify existing and new individuals. The identification of these phenotype extremes can be useful in the search for disease modifiers., This work was in part funded by a grant from the EuropeanCommission under the 7th framework programme (RD-Connect, grantagreement number 305444).
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- 2019
18. A French cluster of Creutzfeldt–Jakob disease: a molecular analysis
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Beaudry, P., Parchi, P., Peocʼh, K., Desbordes, P., Dartigues, J.-F., Vital, A., Vital, C., Capellari, S., Gambetti, P., Delasnerie-Lauprêtre, N., Mary, J. Y., and Laplanche, J.-L.
- Published
- 2002
19. 'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2
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Morgia, C. La, Parchi, P., Capellari, S., Lodi, R., Tonon, C., Rinaldi, R., Mondini, S., and Cirignotta, F.
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Creutzfeldt-Jakob disease -- Diagnosis ,Creutzfeldt-Jakob disease -- Case studies ,Autopsy -- Usage ,Health ,Psychology and mental health - Published
- 2009
20. Effects on cognition of 20 days of anodal trans-cranial Direct Current Stimulation (tDCS) over left dorsolateral-pre-frontal cortex (DLPFC) in patients affected by Mild Cognitive Impairment: A case-control study
- Author
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Fileccia, E., primary, Di Stasi, V., additional, Poda, R., additional, Rizzo, G., additional, Stanzani-Maserati, M., additional, Oppi, F., additional, Capellari, S., additional, and Liguori, R., additional
- Published
- 2019
- Full Text
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21. Typing prion isoforms
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Parchi, P., Capellari, S., Chen, S. G., Petersen, R. B., Gambetti, P., Kopp, N., Brown, P., Kitamoto, T., Tateishi, J., Giese, A., and Kretzschmar, H.
- Published
- 1997
22. CREUTZFELDT-JAKOB DISEASE (CJD) WITH 178ASN MUTATION IN THE PRION PROTEIN GENE: NEUROPATHOLOGICAL AND MOLECULAR FEATURES
- Author
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Parchi, P., Capellari, S., Sima, A. A.F., DʼAmato, C., McKeever, P., Mikol, J., Brion, S., Brown, P., Chen, S. G., Petersen, R. B., and Gambetti, P.
- Published
- 1996
23. Familial Epileptic Encephalopathy and Optic Atrophy Harboring an mtDNA Haplotype Associated with Leber's Hereditary Optic Neuropathy
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Cerullo, A., Carelli, V., Zacchini, A., Malpassi, P., Barboni, P., Fabbri, R., Sangiorgi, S., Ghelli, A., Ratta, M., Esposti, M. Degli, Capellari, S., Montagna, P., and Tinuper, P.
- Published
- 1996
24. Gelastic Seizures and Hypothalamic Hamartomas: Autonomic and Hormonal Ictal Changes
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Tinuper, P., Cerullo, A., Provini, F., Cortelli, P., Capellari, S., and Lugaresi, E.
- Published
- 1996
25. PROTEASE-RESISTANT PRION PROTEIN IN SPORADIC CREUTZFELDT-JAKOB DISEASE (CJD): CORRELATION WITH CLINICO-PATHOLOGICAL FEATURES AND PRP GENOTYPE: 19
- Author
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Parchi, P., Castellani, R., Capellari, S., Petersen, R. B., Chen, S. G., Younq, K., Farlow, M., Troianowski, J. Q., Sima, A., Ghetti, B., and Gambetti, P.
- Published
- 1995
26. A novel prion protein gene‐truncating mutation causing autonomic neuropathy and diarrhea
- Author
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Bommarito, G., primary, Cellerino, M., additional, Prada, V., additional, Venturi, C., additional, Capellari, S., additional, Cortelli, P., additional, Mancardi, G. L., additional, Parchi, P., additional, and Schenone, A., additional
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- 2018
- Full Text
- View/download PDF
27. Suicidal ideation in a European Huntington's disease population
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Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast RC, Giltay, Ej, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo MA, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, Šašinková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva WV, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, As, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Salvatore, E, Rinaldi, C, Rossi, F, Massarelli, M, Roca, A, Ammendola, S, Russo, Cv, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, Romano, S, van Hout MS, van Vugt JP, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard SJ, 't Hart EP, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Stompel, D, Banaszkiewicz, K, Boćwińska, D, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygieł, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Wiśniewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, Stępniak, I, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno JL, García Ruíz PJ, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea MF, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Martinez Jaurrieta MD, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani TW, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani TW, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Guzman, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, Quarrell, O., Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), A. A., M, E. v., Duijn, R. A., C, D., Craufurd, H., Rickard, G. B., Landwehrmeyer, R. C., Van, E. J., Giltay, R. E., G., Rinaldi, Carlo, Anna A.M. Huber, Erik van Duijn, Raymund A.C. Roo, David Craufurd, Hugh Rickard, G. Bernhard Landwehrmeyer, Rose C. van der Mast, Erik J. Giltay REGISTRY investigators of the European Huntington's Disease Network. Collaborators: Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, llmann TI, Landwehrmeyer GB, Levey J, Ramos-Arroyo MA, Nielsen JE, ProKoivisto S, Päivärinta M, Roos RA, Rojo Sebastián A, Tabrizi SJ, Vandenberghe W, Verellen- Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Pro Koivisto S, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, Walsem MR, Wright A, da Silva WV, Witjes-Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Poewe W, Braunwarth EM, Sprenger F, Müller C, Sinadinosa D, Walleczek AM, Ladurner G, Staffen W, Flamez A, Morez V, de Raedt S, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hartikainen P, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer- Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann M, Marcel C, Calvas F, Pariente J, Démonet JF, Cheriet S, Kosinski CM, Milkereit E, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüß H, Spruth EJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Bosredon C, Maass A, Schmidt S, Storch A, Wolz M, Kohl Z, Winkler J, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Dressler D, Gorzolla H, Schrader C, Tacik P, Heinicke W, Longinus B, Bürk K, Möller JC, Rissling I, Mühlau M, Peinemann A, Städtler M, Weindl A, Winkelmann J, Ziegler C, Bohlen S, Hölzner E, Reilmann R, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Buck A, Connemann J, Eschenbach C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Schwenk D, Süßmuth S, Trautmann S, Weydt P, Cormio C, Sciruicchio V, Serpino C, Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Salvatore E, Rinaldi C, Rossi F, Massarelli M, Roca A, Ammendola S, Russo CV, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, Weert A, Bolwijn J, Dekker M, Leenders K, Kremer HP, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Økland E, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Koivisto SP, Retterstøl L, Overland T, Stokke B, Sando B, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzińska M, Wójcik M, Dec M, Krawczyk M, Jaremek KB, Szczygieł E, Stenwak A, ielewska AW, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Timóteo Â, Costa C, Cavaco S, Damásio J, Loureiro R, Magalhães M, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Quiroga PP, Rivera SV, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, Yébenes JG, López-Sendón Moreno JL, García Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Noguera Perea MF, Fortuna L, Martirio M, Torres A, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastián AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, Díez-AjaLópez C, Terol SD, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Càrdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, San Martín ES, González M, Gorospe A, Legarda I, Arques PN, Torres Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Manuel J, Moreno G, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Bosca M, Burguera JA, Garcia AC, Brugada FC, Martínez LM, Val JL, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, lhagen SE, Paucar M, Svenningsson P, Reza- Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Tedr- off J, Esmaeilzadeh M, Winnberg E, Pålhagen S, Svennigsson P, Riza-Soltani TW, Sundblom J, Johansson A, Wiklund L, Ekwall C, Göller ML, Petersén A, Reimer J, Widner H, Stebler Y, Kaelin A, Romero I, Schüpbach M, Weber S, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, Souza J, Rickards H, Wright J, Hayward B, Sieradzan K, Barker RA, O'Keefe D, Di Pietro A, Fisher K, Hill S, Mason S, Swain R, Valle N, Guzman, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Wild S, Yarduiman P, Chu C, Kraus A, Yardumian P, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Craufurd D, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Burn J, Coleman C, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O'Donovan K, Taylor C, Tidswell K, Quarrell O., Molecular Neuroscience and Ageing Research (MOLAR), Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast, Rc, Giltay, Ej, CollaboratorsBachoud Lévi AC, REGISTRY investigators of the European Huntington's Disease N. e. t. w. o. r. k., Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo, Ma, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, a??inková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva, Wv, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempí??, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, A, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, 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Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, Rinaldi, C, Massarelli, M, Roca, A, Russo, Cv, van Hout, M, van Vugt, Jp, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard, Sj, 't Hart, Ep, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, K??odowska Duda, G, Stompel, D, Banaszkiewicz, K, Bo??wi??ska, D, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygie??, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempo??owicz, J, Samara, H, Wi??niewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, St??pniak, I, Witkowski, G, Zdzienicka, E, Su??ek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno, Jl, García Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea, Mf, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, 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A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, and Quarrell, O.
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Male ,medicine.medical_specialty ,Heterozygote ,Psychopharmacology ,Population ,Poison control ,psychology/statistics /&/ numerical data ,Suicide, Attempted ,Suicide prevention ,Suicidal Ideation ,[SHS]Humanities and Social Sciences ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Prevalence ,Humans ,epidemiology, Europe ,Psychiatry ,education ,Suicidal ideation ,ComputingMilieux_MISCELLANEOUS ,Proportional Hazards Models ,Attempted ,Psychiatric Status Rating Scales ,education.field_of_study ,Psychological Tests ,Suicide attempt ,Psychopathology ,Depression ,Hazard ratio ,Huntington's disease ,Odds ratio ,Middle Aged ,3. Good health ,030227 psychiatry ,Europe ,psychology, Male, Middle Aged, Prevalence, Proportional Hazards Models, Psychiatric Status Rating Scales, Psychological Tests, Suicidal Ideation, Suicide ,Clinical Psychology ,Psychiatry and Mental health ,Suicide ,Huntington Disease ,epidemiology, Female, Heterozygote, Humans, Huntington Disease ,Cohort studies ,Female ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
BACKGROUND: Previous studies indicate increased prevalences of suicidal ideation, suicide attempts, and completed suicide in Huntington's disease (HD) compared with the general population. This study investigates correlates and predictors of suicidal ideation in HD.METHODS: The study cohort consisted of 2106 HD mutation carriers, all participating in the REGISTRY study of the European Huntington's Disease Network. Of the 1937 participants without suicidal ideation at baseline, 945 had one or more follow-up measurements. Participants were assessed for suicidal ideation by the behavioural subscale of the Unified Huntington's Disease Rating Scale (UHDRS). Correlates of suicidal ideation were analyzed using logistic regression analysis and predictors were analyzed using Cox regression analysis.RESULTS: At baseline, 169 (8.0%) mutation carriers endorsed suicidal ideation. Disease duration (odds ratio [OR]=0.96; 95% confidence interval [CI]: 0.9-1.0), anxiety (OR=2.14; 95%CI: 1.4-3.3), aggression (OR=2.41; 95%CI: 1.5-3.8), a previous suicide attempt (OR=3.95; 95%CI: 2.4-6.6), and a depressed mood (OR=13.71; 95%CI: 6.7-28.0) were independently correlated to suicidal ideation at baseline. The 4-year cumulative incidence of suicidal ideation was 9.9%. Longitudinally, the presence of a depressed mood (hazard ratio [HR]=2.05; 95%CI: 1.1-4.0) and use of benzodiazepines (HR=2.44; 95%CI: 1.2-5.0) at baseline were independent predictors of incident suicidal ideation, whereas a previous suicide attempt was not predictive.LIMITATIONS: As suicidal ideation was assessed by only one item, and participants were a selection of all HD mutation carriers, the prevalence of suicidal ideation was likely underestimated.CONCLUSIONS: Suicidal ideation in HD frequently occurs. Assessment of suicidal ideation is a priority in mutation carriers with a depressed mood and in those using benzodiazepines.
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- 2013
28. Regional pattern of microgliosis in sporadic Creutzfeldt-Jakob disease in relation to phenotypic variants and disease progression
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Franceschini, A., primary, Strammiello, R., additional, Capellari, S., additional, Giese, A., additional, and Parchi, P., additional
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- 2018
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29. 3. Immunofluorescence characterization of skin nerve misfolded α-synuclein in different synucleinopathies: A confocal study
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Donadio, V., primary, Incensi, A., additional, El-Agnaf, O., additional, Rizzo, G., additional, Vaikath, N., additional, Scaglione, C., additional, Capellari, S., additional, Stanzani Maserati, M., additional, Pantieri, R., additional, and Liguori, R., additional
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- 2017
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30. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY
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Orth, M, Handley, Oj, Schwenke, C, Dunnett, S, Wild, Ej, Tabrizi, Sj, Landwehrmeyer, Gb, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, 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Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Faculty of Economic and Social Sciences and Solvay Business School, Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Orth M., European Huntington's Disease Network, Handley O.J., Schwenke C., Dunnet S., Wild E.J., Tabrizi S.J., Landwehrmeyer G.B., Capellari S., Cortelli P., Gallassi R., Poda R., Rizzo G., and Scaglione C.
- Subjects
Gerontology ,medicine.medical_specialty ,Neurology ,International Cooperation ,Disease ,Irritability ,Data Collection/methods ,Huntington's disease ,medicine ,Humans ,Registries ,Psychiatry ,Suicidal ideation ,Disease burden ,business.industry ,Data Collection ,medicine.disease ,Europe ,Huntington Disease ,Psychiatry and Mental health ,European Huntington's Disease Network ,Surgery ,Observational study ,Neurology (clinical) ,medicine.symptom ,business - Abstract
BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS: We report on cross-sectional data of the first 1766 participants in REGISTRY, the European Huntington's Disease Network's (EHDN), multi-lingual, multi-national prospective observational study of HD in Europe. Data collection (demographics, phenotype, genotype, medication, co-morbidities, biosamples) followed a standard protocol. RESULTS: Phenotype, and the HD genotype, of manifest HD participants across different European regions was similar. Motor onset was most common (48%) with a non-motor onset in more than a third of participants. Motor signs increased, and cognitive abilities and functional capacity declined as the disease burden (CAGn-35.5) X age) increased. A life-time history of behavioural symptoms was common, but the behavioural score was not related to disease burden. One fifth of participants had severe psychiatric problems, e.g. suicidal ideation and attempts, and/or irritability/aggression, with psychosis being less common. Participants on anti-dyskinetic medication had a higher motor and lower cognitive score, were older, and more prone to physical trauma. A higher motor and a lower cognitive score predicted more advanced disease. CONCLUSIONS: The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of novel treatments.
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- 2011
31. 45. Skin nerve α-synuclein deposits as possible new biomarker for Dementia with Lewy bodies
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Donadio, V., primary, Incensi, A., additional, Capellari, S., additional, Rizzo, G., additional, Pantieri, R., additional, Stanzani Maserati, M., additional, Devigili, G., additional, Eleopra, R., additional, Montini, F., additional, Baruzzi, A., additional, and Liguori, R., additional
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- 2016
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32. Discrepancies in reporting the CAG repeat lengths for Huntington's disease
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Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, Barth, K, Correia Guedes, L, Maria Finisterra, A, Bascuñana Garde, M, Bos, R, Ecker, D, Held, C, Koppers, K, Laurà, M, Martínez Descals, A, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Šašinková, P, Cubillo, Pt, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bachoud Lévi AC, Bentivoglio, Ar, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, 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F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Modoni, A, Piano, C, Piccininni, C, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, Marit de Weert, A, Bolwijn, Jj, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Retterstøl, L, Overland, T, Stokke, B, Bjørnevoll, I, Sando, Sb, Sitek, E, Slawek, J, Soltan, W, Boczarska Jedynak, M, Jasinska Myga, B, Opala, G, Kodowska Duda, G, Banaszkiewicz, K, Szczudlik, A, Rudziñska, M, Wójcik, M, Dec, M, Krawczyk, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempoowicz, J, Samara, H, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Ryglewicz, D, Witkowski, G, Zdzienicka, E, Suek, A, Krysa, W, Guedes, L, Coelho, M, Mendes, T, Valadas, A, Cavaco, S, Damásio, J, Magalhães, M, Gago, M, Garrett, C, Guerra, Mr, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Rabasa Perez, M, Fenollar, M, García, R, Quiroga, Pp, Vázquez Rivera, S, Villanueva, C, Bascuñana, M, Fatás Ventura, M, García Ribas, G, García de Yébenes, J, López Sendón Moreno JL, García Ruíz PJ, José Saiz Artiga, M, Sánchez, V, Noguera Perea, F, Lorenza, F, Torres, Mm, Reinante, G, Vivancos Moreau, L, Barbera, Ma, Badenes Guia, D, Hernanz, Lc, Catena, Jl, Ferrer, Pq, Tome Carruesco, G, Bas, J, Busquets, N, Calopa, M, Dalmau Elorza, M, Díez, C, López, A, Durán, S, Terol, S, Floriach Robert, M, Garzón Ruíz, B, González Casado, A, Haro Martínez, I, Viladrich, Cm, Càrdenas R, Pons i., Roca, E, Llesoy, Jr, Ruiz Idiago JM, Ruíz Vergara, M, Soriano García, S, Villa Riballo, A, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Bosca, M, Burguera, Ja, Garcia, Ac, Pålhagen, Se, Paucar, M, Svenningsson, P, Walldén Reza Soltani, T, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedroff, J, Esmaeilzadeh, M, Winnberg, E, Burgunder, Y, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Zaugg, Sw, Jack, R, Matheson, K, Miedzybrodzka, Z, Rae, D, Simpson, S, Summers, F, Ure, A, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, A, Hill, S, Kershaw, A, Mason, S, Paterson, N, Raymond, L, Bisson, J, Busse, M, Clenaghan, C, Ellison Rose, L, Hunt, S, Price, K, Rosser, A, Edwards, M, Hughes, T, Mcgill, M, Pearson, P, Porteous, M, Smith, P, Zeman, A, Causley, A, Harrower, T, Howcroft, D, Lambord, N, Rankin, J, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Barnes, K, Chu, C, Hobson, E, Jamieson, S, Markova, I, Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, J, Gross, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Suida, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Tidswell, K., Kaelin, André, Quarrel O.W., Handley O., O'Donovan K., Dumoulin C., Ramos-Arroyo M., Biunno I., Bauer P., Kline M., Capellari S., Cortelli P., Gallassi R., Landwehrmeyer G.B., European Huntington's Disease Network., Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Quarrell, Ow, Handley, O, O'Donovan, K, Dumoulin, C, Ramos Arroyo, M, Biunno, I, Bauer, P, Kline, M, Landwehrmeyer, Gb, European Huntington's Disease, Network, European Huntington's Disease, N. e. t. w. o. r. k., Rinaldi, Carlo, Salvatore, Elena, and DE MICHELE, Giuseppe
- Subjects
medicine.medical_specialty ,Concordance ,International Cooperation ,Diagnostic Errors/statistics & numerical data ,Nerve Tissue Proteins ,Guidelines as Topic ,Bioinformatics ,Sensitivity and Specificity ,Article ,Huntingtin Gene ,Huntington's disease ,Trinucleotide Repeats ,Internal medicine ,External quality assessment ,Genetics ,medicine ,Humans ,Nerve Tissue Proteins/genetics ,Diagnostic laboratory ,Genetic Testing ,Genetic Testing/methods/standards ,Allele ,Diagnostic Errors ,standard reference material ,Genetics (clinical) ,Alleles ,Huntingtin Protein ,ddc:618 ,business.industry ,international cooperation ,Nuclear Proteins ,Reproducibility of Results ,Reference Standards ,medicine.disease ,CAG repeat length ,Nuclear Proteins/genetics ,Huntington Disease ,Huntington Disease/diagnosis ,Mutation ,Medical genetics ,reproducibility of results ,mutation ,business ,Trinucleotide repeat expansion ,Huntington Disease/diagnosis/genetics ,Genetic Testing/methods - Abstract
Huntington's disease results from a CAG repeat expansion within the Huntingtin gene; this is measured routinely in diagnostic laboratories. The European Huntington's Disease Network REGISTRY project centrally measures CAG repeat lengths on fresh samples; these were compared with the original results from 121 laboratories across 15 countries. We report on 1326 duplicate results; a discrepancy in reporting the upper allele occurred in 51% of cases, this reduced to 13.3% and 9.7% when we applied acceptable measurement errors proposed by the American College of Medical Genetics and the Draft European Best Practice Guidelines, respectively. Duplicate results were available for 1250 lower alleles; discrepancies occurred in 40% of cases. Clinically significant discrepancies occurred in 4.0% of cases with a potential unexplained misdiagnosis rate of 0.3%. There was considerable variation in the discrepancy rate among 10 of the countries participating in this study. Out of 1326 samples, 348 were re-analysed by an accredited diagnostic laboratory, based in Germany, with concordance rates of 93% and 94% for the upper and lower alleles, respectively. This became 100% if the acceptable measurement errors were applied. The central laboratory correctly reported allele sizes for six standard reference samples, blind to the known result. Our study differs from external quality assessment (EQA) schemes in that these are duplicate results obtained from a large sample of patients across the whole diagnostic range. We strongly recommend that laboratories state an error rate for their measurement on the report, participate in EQA schemes and use reference materials regularly to adjust their own internal standards.
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- 2012
33. Quantifying prion disease penetrance using large population control cohorts
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Minikel, E.V. (Eric Vallabh), Vallabh, S.M. (Sonia M.), Lek, M. (Monkol), Estrada Gil, K. (Karol), Samocha, K.E. (Kaitlin E.), Sathirapongsasuti, J.F. (J. Fah), McLean, C.Y. (Cory Y.), Tung, J.Y. (Joyce Y.), Yu, L.P.C. (Linda P. C.), Gambetti, P. (Pierluigi), Blevins, J. (Janis), Zhang, S. (Shulin), Cohen, Y. (Yvonne), Chen, W. (Wei), Yamada, M., Hamaguchi, T. (Tsuyoshi), Sanjo, N. (Nobuo), Mizusawa, H. (Hidehiro), Nakamura, Y. (Yosikazu), Kitamoto, T. (Tetsuyuki), Collins, S.J. (Steven), Boyd, A. (Alison), Will, R.G. (Robert G.), Knight, R. (Richard), Ponto, C. (Claudia), Zerr, I. (Inga), Kraus, T.F.J. (Theo F.J.), Eigenbrod, S. (Sabina), Giese, A. (Armin), Calero, M. (Miguel), Pedro-Cuesta, J. (Jesús) de, Haik, S., Laplanche, J.-L. (Jean-Louis), Bouaziz-Amar, E. (Elodie), Brandel, J-P. (Jean-Philippe), Capellari, S. (Sabina), Parchi, P. (Piero), Poleggi, A. (Anna), Ladogana, A. (Anna), O'Donnell-Luria, A.H. (Anne H.), Karczewski, K.J. (Konrad), Marshall, J.L. (Jamie L.), Boehnke, M. (Michael), Laakso, M. (Markku), Mohlke, K.L. (Karen), Kähler, J. (Jan), Chambert, K. (Kimberly), McCarroll, S.A. (Steven), Sullivan, P.F. (Patrick F.), Hultman, C.M. (Christina), Purcell, S. (Shaun), Sklar, P. (Pamela), Lee, S.J. (Sven) van der, Rozemuller, A.J.M. (Annemieke), Jansen, C. (Casper), Hofman, A. (Albert), Kraaij, R. (Robert), Rooij, J.G.J. (Jeroen) van, Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Daly, M.J. (Mark), MacArthur, D.G. (Daniel G.), Minikel, E.V. (Eric Vallabh), Vallabh, S.M. (Sonia M.), Lek, M. (Monkol), Estrada Gil, K. (Karol), Samocha, K.E. (Kaitlin E.), Sathirapongsasuti, J.F. (J. Fah), McLean, C.Y. (Cory Y.), Tung, J.Y. (Joyce Y.), Yu, L.P.C. (Linda P. C.), Gambetti, P. (Pierluigi), Blevins, J. (Janis), Zhang, S. (Shulin), Cohen, Y. (Yvonne), Chen, W. (Wei), Yamada, M., Hamaguchi, T. (Tsuyoshi), Sanjo, N. (Nobuo), Mizusawa, H. (Hidehiro), Nakamura, Y. (Yosikazu), Kitamoto, T. (Tetsuyuki), Collins, S.J. (Steven), Boyd, A. (Alison), Will, R.G. (Robert G.), Knight, R. (Richard), Ponto, C. (Claudia), Zerr, I. (Inga), Kraus, T.F.J. (Theo F.J.), Eigenbrod, S. (Sabina), Giese, A. (Armin), Calero, M. (Miguel), Pedro-Cuesta, J. (Jesús) de, Haik, S., Laplanche, J.-L. (Jean-Louis), Bouaziz-Amar, E. (Elodie), Brandel, J-P. (Jean-Philippe), Capellari, S. (Sabina), Parchi, P. (Piero), Poleggi, A. (Anna), Ladogana, A. (Anna), O'Donnell-Luria, A.H. (Anne H.), Karczewski, K.J. (Konrad), Marshall, J.L. (Jamie L.), Boehnke, M. (Michael), Laakso, M. (Markku), Mohlke, K.L. (Karen), Kähler, J. (Jan), Chambert, K. (Kimberly), McCarroll, S.A. (Steven), Sullivan, P.F. (Patrick F.), Hultman, C.M. (Christina), Purcell, S. (Shaun), Sklar, P. (Pamela), Lee, S.J. (Sven) van der, Rozemuller, A.J.M. (Annemieke), Jansen, C. (Casper), Hofman, A. (Albert), Kraaij, R. (Robert), Rooij, J.G.J. (Jeroen) van, Ikram, M.A. (Arfan), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Daly, M.J. (Mark), and MacArthur, D.G. (Daniel G.)
- Abstract
Copyright
- Published
- 2016
- Full Text
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34. Creutzfeldt-Jakob disease (CJD) in italian patients with PRNP V210I mutation: an epidemiological and clinical evaluation
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MELLINA V, LADOGANA A, POLEGGI A, PUOPOLO M, ALMONTI S, CAPELLARI S, GIACCONE G, DI FEDE G, COPPOLA, Cinzia, COTRUFO R, TAGLIAVINI F, PARCHI P, POCCHIARI M., PUOTI, Gianfranco, Mellina, V, Ladogana, A, Poleggi, A, Puopolo, M, Almonti, S, Capellari, S, Puoti, Gianfranco, Giaccone, G, DI FEDE, G, Coppola, Cinzia, Cotrufo, R, Tagliavini, F, Parchi, P, and Pocchiari, M.
- Published
- 2008
35. Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency
- Author
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Donadio, V., primary, Liguori, R., additional, Incensi, A., additional, Chiaro, G., additional, Bartoletti-Stella, A., additional, Capellari, S., additional, and Cortelli, P., additional
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- 2016
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- View/download PDF
36. Reduced in Vivo thalamic N-Acetyl-Aspartate is a Diagnostic Marker of Prion Disease
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Lodi, R., Parchi, P., Tonon, C., David Manners, Capellari, S., Filla, A., Malucelli, E., Pierangeli, G., Cortelli, P., Montagna, P., Barbiroli, B., Lodi R., Parchi P., Tonon C., Manners D., Capellari S., Filla A., Malucelli E., Pierangeli G., Cortelli P., Montagna P., and Barbiroli B.
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SPETTROSCOPIA NMR PROTONE ,MALATTIE DA PRIONI - Published
- 2005
37. Subacute Alzheimer’s disease with prominent white matter involvement. Report of a pathologically-confirmed case
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Orsucci, Daniele, Piazza, S., Moretti, P., Pasquali, Livia, Ali', Greta, Capellari, S., Murri, Luigi, Bonuccelli, Ubaldo, Siciliano, Gabriele, Cosottin, and Parchi, P.
- Published
- 2013
38. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression
- Author
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Giorgio, E, Rolyan, H, Kropp, L, Chakka, Ab, Yatsenko, S, Di Gregorio, E, Lacerenza, D, Vaula, G, Talarico, F, Mandich, Paola, Toro, C, Pierre, Ee, Labauge, P, Capellari, S, Cortelli, P, Vairo, Fp, Miguel, D, Stubbolo, D, Marques, Lc, Gahl, W, Boespflug Tanguy, O, Melberg, A, Hassin Baer, S, Cohen, Os, Pjontek, R, Grau, A, Klopstock, T, Fogel, B, Meijer, I, Rouleau, G, Bouchard, Jp, Ganapathiraju, M, Vanderver, A, Dahl, N, Hobson, G, Brusco, A, Brussino, A, Padiath, Qs, E. Giorgio, H. Rolyan, L. Kropp, A. B. Chakka, S. Yatsenko, E. D. Gregorio, D. Lacerenza, G. Vaula, F. Talarico, P. Mandich, C. Toro, E. E. Pierre, P. Labauge, S. Capellari, P. Cortelli, F. P. Vairo, D. Miguel, D. Stubbolo, L. C. Marque, W. Gahl, O. Boespflug-Tanguy, A. Melberg, S. Hassin-Baer, O. S. Cohen, R. Pjontek, A. Grau, T. Klopstock, B. Fogel, I. Meijer, G. Rouleau, J. L. Bouchard, M. Ganapathiraju, A. Vanderver, N. Dahl, G. Hobson, A. Brusco, A. Brussino, and Q. S. Padiath
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metabolism [Pelizaeus-Merzbacher Disease] ,Adult ,leukodystrophy ,Pelizaeus-Merzbacher Disease ,metabolism [Lamin Type B] ,Molecular Sequence Data ,NHE ,duplication Alu ,metabolism [RNA, Messenger] ,genetics [RNA, Messenger] ,Chromosome Breakpoints ,ADLD ,autosomal dominant leukodystrophy ,Gene Duplication ,Lamin B1 ,LMNB1 ,NHEJ ,MMBIR ,FoSTeS ,Humans ,ddc:610 ,RNA, Messenger ,lamin B1 ,Research Articles ,chemistry [DNA] ,Comparative Genomic Hybridization ,genetics [DNA] ,Base Sequence ,Lamin Type B ,DNA ,genetics [Lamin Type B] ,Nucleic Acid Conformation ,genetics [Pelizaeus-Merzbacher Disease] - Abstract
Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications share the same haplotype, likely inherited from a common founder and that the duplications originated from intrachromosomal events. The duplication junction sequences indicated that nonhomologous end joining or replication-based mechanisms such fork stalling and template switching or microhomology-mediated break induced repair are likely to be involved. LMNB1 expression was increased in patients’ fibroblasts both at mRNA and protein levels and the three LMNB1 alleles in ADLD patients show equal expression, suggesting that regulatory regions are maintained within the rearranged segment. These results have allowed us to elucidate duplication mechanisms and provide insights into allele-specific LMNB1 expression levels.
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- 2013
39. AUTOSOMAL DOMINANT LEUKODYSTROPHY: GENETIC CHARACTERIZATION OF EIGHT FAMILIES WITH HOMOGENEOUS PHENOTYPE
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Vaula, G., Brussino, Alessandro, Cortelli, P., DI GREGORIO, Eleonora, Mandich, P., Giorgio, Elisa, Lacerenza, Daniela, Capellari, S., Talarico, F., Gahl, W., Pierre, O. BOESPFLUG TANGUY E., Toro, C., PINTO VAIRO, F., and Brusco, Alfredo
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- 2011
40. Characterization of lamin B1 duplication breakpoints and expression analysis in ADLD patients
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Brussino, Alessandro, DI GREGORIO, Eleonora, Giorgio, Elisa, Lacerenza, Daniela, Talarico, F, Vaula, G, Mandich, P, Toro, C, Pierre, E, Labauge, P, Capellari, S, Cortelli, P, Pinto Vairo, F, Gahl, W, Boespflug Tanguy, O, and Brusco, Alfredo
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leukodystrophy ,nuclear protein ,ADLD ,Lamin B1 ,autosomal dominant disease - Published
- 2011
41. Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie
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Brussino, Alessandro, Giorgio, Elisa, DI GREGORIO, Eleonora, Lacerenza, Daniela, Talarico, F., Vaula, G., Mandich, P., Capellari, S., Cortelli, P., Boespflug Tanguy, O., Gahl, W., and Brusco, Alfredo
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lamina B1 ,leucodistrofia ,ADLD - Published
- 2011
42. Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype
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Vaula, G, Brussino, Alessandro, Cortelli, P, DI GREGORIO, Eleonora, Mandich, P, Giorgio, Elisa, Lacerenza, Daniela, Capellari, S, Talarico, F, Gahl, W, Boespflug Tanguy, O, Pierre, E, Toro, C, Pinto Vairo, F, and Brusco, Alfredo
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ADLD ,autosomal dominant leukodystrophy ,lamin B1 ,gene duplication - Published
- 2011
43. Messenger RNA processing is altered in autosomal dominant leukodystrophy
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Bartoletti-Stella, A., primary, Gasparini, L., additional, Giacomini, C., additional, Corrado, P., additional, Terlizzi, R., additional, Giorgio, E., additional, Magini, P., additional, Seri, M., additional, Baruzzi, A., additional, Parchi, P., additional, Brusco, A., additional, Cortelli, P., additional, and Capellari, S., additional
- Published
- 2015
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44. Effects of formalin fixation, paraffin embedding, and time of storage on DNA preservation in brain tissue: A BrainNet Europe study
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Ferrer I, Armstrong-Moron J, Capellari S, Parchi P, Arzberger T, Bell J, Budka H, Ströbel T, Giaccone G, Rossi G, Bogdanovic N, Fakai P, Schmitt A, Riederers P, Al-Sarraj S, Ravid R, and Kretzschmar H
- Abstract
There is a large amount of tissue stored in brain collections and brain banks, but little is known about whether formalin-fixed tissues and paraffin blocks stored for years in brain banks are suitable for the retrospective genetic studies. The study was carried out in order to: (i) compare DNA preservation in frozen, formalin-fixed and paraffin-embedded tissues stored for different periods; (ii) study point mutations and triplet expansions in frozen, formalin-fixed and paraffin-embedded material stored for variable periods, and using different fixative solutions; (iii) compare different methods to optimize DNA extraction and DNA amplification from suboptimally preserved brain tissue. DNA preservation is suitable for genetic studies in samples stored at -80 degrees C for several years. Formalin-fixed, paraffin-embedded tissue was inferior to frozen tissue, but did yield adequate results in many cases depending on the type of fixative solution and time of fixation before embedding. Prolonged fixation in formalin rarely yielded useful DNA. Similar results were obtained in samples from prion diseases. The best results were obtained by using the Qiagen kits (QIAmp DNA Micro) in frozen material, paraffin blocks and formalin-fixed tissue. Genomiphi and TaKaRa Ex Taq methods were also assayed in paraffin blocks and in formalin-fixed samples with limited success.
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- 2007
45. Skin nerve -synuclein deposits: A biomarker for idiopathic Parkinson disease
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Donadio, V., primary, Incensi, A., additional, Leta, V., additional, Giannoccaro, M. P., additional, Scaglione, C., additional, Martinelli, P., additional, Capellari, S., additional, Avoni, P., additional, Baruzzi, A., additional, and Liguori, R., additional
- Published
- 2014
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46. MV2 (Kuru Plaques) variant of sporadic Creutzfeldt-Jacob disease: peripheral neuropathy is part of the clinical spectrum
- Author
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Sola, P, Stucchi, C, Capellari, S, Galassi, G, Roncaroli, F, Mandrioli, J, Cortelli, P, Baruzzi, A, Nichelli, P, and Parchi, P
- Published
- 2002
47. Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family
- Author
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Popova, Svetlana N, Tarvainen, I, Capellari, S, Parchi, P, Hannikainen, P, Pirinen, E, Haapasalo, H, Alafuzoff, Irina, Popova, Svetlana N, Tarvainen, I, Capellari, S, Parchi, P, Hannikainen, P, Pirinen, E, Haapasalo, H, and Alafuzoff, Irina
- Abstract
OBJECTIVES: Gerstmann-Sträussler-Scheinker syndrome belongs to the genetic prion diseases being associated with mutations in the prion protein gene (PRNP). The most common is the point mutation at codon 102, leading to the substitution of proline to leucine (P102L). Previous reports have indicated a phenotypic heterogeneity among individuals with this mutation. Here, we describe the clinical and pathological phenotype in members of the first Finnish kindred with the P102L mutation in the PNRP gene. MATERIALS AND METHODS: Genetic and clinical information was available in five members of a family, while a systematic histologic and immunohistochemical assessment of the post-mortem brain was carried out in three. RESULTS: Clinical presentation, disease duration and the clinical phenotype (ataxia vs dementia) varied between patients. There was a significant correlation between clinical symptoms and the neuroanatomical distribution of prion protein-immunoreactive aggregates, i.e. subtentorial predominance in ataxia vs cortical predominance in dementia. A significant concomitant Alzheimer is disease-related pathology was observed in the brain of one patient with dementia as onset symptom. CONCLUSIONS: This is the first Scandinavian family carrying the P102L mutation in the PRNP gene. Gerstmann-Sträussler-Scheinker syndrome should be considered in the differential diagnosis when handling with patients with ataxia and/or dementia of unclear aetiology.
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- 2012
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48. Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.
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Jansen, C., Parchi, P., Capellari, S., Ibrahim-Verbaas, C.A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M.T., van Gool, W.A., Verbeek, M.M., Baas, F., van Saane, W, Spliet, W.G.M., Jansen, G.H., van Duijn, C.M., Rozemuller, A.J., Jansen, C., Parchi, P., Capellari, S., Ibrahim-Verbaas, C.A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M.T., van Gool, W.A., Verbeek, M.M., Baas, F., van Saane, W, Spliet, W.G.M., Jansen, G.H., van Duijn, C.M., and Rozemuller, A.J.
- Published
- 2012
49. Human prion diseases in the Netherlands (1998-2009): Clinical, genetic and molecular aspects
- Author
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Jansen, C. (Casper), Parchi, P. (Piero), Capellari, S. (Sabina), Ibrahim-Verbaas, C.A. (Carla), Schuur, M. (Maaike), Strammiello, R. (Rosario), Corrado, P. (Patrizia), Bishop, M.T. (Matthew), Gool, W.A. (Willem) van, Verbeek, M.M. (Marcel), Baas, F. (Frank), Saane, W. (Wesley) van, Spliet, W.G.M. (Wim), Jansen, G.H. (Gerard), Duijn, C.M. (Cornelia) van, Rozemuller, A.J.M. (Annemieke), Jansen, C. (Casper), Parchi, P. (Piero), Capellari, S. (Sabina), Ibrahim-Verbaas, C.A. (Carla), Schuur, M. (Maaike), Strammiello, R. (Rosario), Corrado, P. (Patrizia), Bishop, M.T. (Matthew), Gool, W.A. (Willem) van, Verbeek, M.M. (Marcel), Baas, F. (Frank), Saane, W. (Wesley) van, Spliet, W.G.M. (Wim), Jansen, G.H. (Gerard), Duijn, C.M. (Cornelia) van, and Rozemuller, A.J.M. (Annemieke)
- Abstract
Prion diseases are rare and fatal neurodegenerative disorders that can be sporadic, inherited or acquired by infection. Based on a national surveillance program in the Netherlands we describe here the clinical, neuropathological, genetic and molecular characteristics of 162 patients with neuropathologically confirmed prion disease over a 12-year period (1998-2009). Since 1998, there has been a relatively stable mortality of Creutzfeldt-Jakob disease (CJD) in the Netherlands, ranging from 0.63 to 1.53 per million inhabitants per annum. Genetic analysis of the codon 129 methionine/valine (M/V) polymorphism in all patients with sporadic CJD (sCJD) showed a trend for under-representation of VV cases (7.0%), compared with sCJD cohorts in other Western countries, whereas the MV genotype was relatively over-represented (22,4%). Combined PrPSc and histopathological typing identified all sCJD subtypes known to date, except for the VV1 subtype. In particular, a "pure" phenotype was demonstrated in 60.1% of patients, whereas a mixed phenotype was detected in 39.9% of all sCJD cases. The relative excess of MV cases was largely accounted for by a relatively high incidence of the MV 2K subtype. Genetic analysis of the prion protein gene (PRNP) was performed in 161 patients a
- Published
- 2012
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50. Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects
- Author
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Cancer, Pathologie, Jansen, C., Parchi, P., Capellari, S., Ibrahim-Verbaas, C.A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M.T., van Gool, W.A., Verbeek, M.M., Baas, F., van Saane, W, Spliet, W.G.M., Jansen, G.H., van Duijn, C.M., Rozemuller, A.J., Cancer, Pathologie, Jansen, C., Parchi, P., Capellari, S., Ibrahim-Verbaas, C.A., Schuur, M., Strammiello, R., Corrado, P., Bishop, M.T., van Gool, W.A., Verbeek, M.M., Baas, F., van Saane, W, Spliet, W.G.M., Jansen, G.H., van Duijn, C.M., and Rozemuller, A.J.
- Published
- 2012
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