13 results on '"Vissing, John"'
Search Results
2. NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
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Ranu, Natasha, Laitila, Jenni, Dugdale, Hannah F., Mariano, Jennifer, Kolb, Justin S., Wallgren-Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus, Fiorillo, Chiara, Zanoteli, Edmar, Auranen, Mari, Jokela, Manu, Tasca, Giorgio, Claeys, Kristl G., Voermans, Nicol C., Palmio, Johanna, Huovinen, Sanna, Moggio, Maurizio, Beck, Thomas Nyegaard, Kontrogianni-Konstantopoulos, Aikaterini, Granzier, Henk, and Ochala, Julien
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- 2022
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3. Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
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Doody, Amy, Alfano, Lindsay, Diaz-Manera, Jordi, Lowes, Linda, Mozaffar, Tahseen, Mathews, Katherine D., Weihl, Conrad C., Wicklund, Matthew, Hung, Man, Statland, Jeffrey, Johnson, Nicholas E., Mathews, Kathy, Leung, Doris, Kang, Peter, Desai, Urvi, Vissing, John, Zingariello, Carla, and Dixon, Stacy
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MUSCULAR dystrophy ,HEALTH outcome assessment ,SHOULDER girdle ,EXPERIMENTAL design ,GENETIC mutation - Abstract
Background: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders. Methods/design: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes. We will perform a multi-center, 12-month study of 188 LGMD patients within the established Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Research Consortium, which is comprised of 11 sites in the United States and 2 sites in Europe. Enrolled patients will be clinically affected and have mutations in CAPN3 (LGMDR1), ANO5 (LGMDR12), DYSF (LGMDR2), DNAJB6 (LGMDD1), SGCA (LGMDR3), SGCB (LGMDR4), SGCD (LGMDR6), or SGCG (LGMDR5, or FKRP-related (LGMDR9). Discussion: To the best of our knowledge, this will be the largest consortium organized to prospectively validate clinical outcome assessments (COAs) in LGMD at its completion. These assessments will help clinical trial readiness by identifying reliable, valid, and responsive outcome measures as well as providing data driven clinical trial decision making for future clinical trials on therapeutic agents for LGMD. The results of this study will permit more efficient clinical trial design. All relevant data will be made available for investigators or companies involved in LGMD therapeutic development upon conclusion of this study as applicable. Trial registration: Clinicaltrials.gov NCT03981289; Date of registration: 6/10/2019. [ABSTRACT FROM AUTHOR]
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- 2024
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4. Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
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Krag, Thomas O., Holm-Yildiz, Sonja, Witting, Nanna, and Vissing, John
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- 2021
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5. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
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Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, and Malfatti, Edoardo
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- 2019
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6. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
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Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G., De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E., Lek, Monkol, MacArthur, Daniel G., and Straub, Volker
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- 2018
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7. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
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Pinós, Tomàs, Andreu, Antoni L., Bruno, Claudio, Hadjigeorgiou, Georgios M., Haller, Ronald G., Laforêt, Pascal, Lucía, Alejandro, Martín, Miguel A., Martinuzzi, Andrea, Navarro, Carmen, Oflazer, Piraye, Pouget, Jean, Quinlivan, Ros, Sacconi, Sabrina, Scalco, Renata S., Toscano, Antonio, Vissing, John, Vorgerd, Matthias, Wakelin, Andrew, and Martí, Ramon
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MEDICAL registries ,MEDICAL personnel as patients ,MUSCLE diseases ,GLYCOGEN storage disease ,MOLECULAR genetics - Abstract
Background: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders.Results: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients.Conclusion: EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level. [ABSTRACT FROM AUTHOR]- Published
- 2020
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8. Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.
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Soldath, Patrick, Madsen, Karen Lindhardt, Buch, Astrid Emilie, Duno, Morten, Wibrand, Flemming, and Vissing, John
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EXERCISE tolerance ,EYE paralysis ,SKELETAL muscle ,MITOCHONDRIAL myopathy ,MITOCHONDRIAL DNA ,NUCLEOTIDE sequencing ,EMBRYOLOGY - Abstract
Background: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most of known cases have not been assessed by objective testing, but only by interview. We report a patient with a mitochondrial DNA (mtDNA) mutation that gives rise to an exclusive myopathy associated with exercise intolerance and ophthalmoplegia. We quantified the patient's exercise intolerance through detailed exercise testing.Case Presentation: A 39-year-old man presented with exercise intolerance and chronic progressive external ophthalmoplegia. Sequencing of the entire mtDNA identified a m.12,294G > A mutation in the MT-TL2 gene. The mutation was heteroplasmic in skeletal muscle (75%) while undetectable in blood, urinary sediment, and buccal mucosa as well as in tissues from the patient's mother. The mutation affected a highly conserved site in the anticodon stem of the mitochondrial transfer RNA Leucine (CUN) molecule and lead to a severe combined respiratory chain defect. Exercise physiological studies in the patient demonstrated a significantly reduced maximal oxygen uptake of 20.4 ml O2 × min-1 × kg-1 (about half of normal) as well as threefold elevated lactate/pyruvate ratios.Conclusion: The findings of our study support that the m.12,294G > A mutation is pathogenic. Likely, the mutation arose sporadically in early embryogenesis after differentiation of the mesoderm into muscle progenitor cells, leading to a pure myopathic phenotype. [ABSTRACT FROM AUTHOR]- Published
- 2017
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9. Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study.
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Petri, Helle, Ahtarovski, Kiril Aleksov, Vejlstrup, Niels, Vissing, John, Witting, Nanna, Køber, Lars, and Bundgaard, Henning
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CHI-squared test ,MAGNETIC resonance imaging ,CARDIOMYOPATHIES ,MYOTONIA atrophica ,RESEARCH funding ,STATISTICAL hypothesis testing ,STATISTICS ,U-statistics ,DATA analysis ,FIBROSIS ,CROSS-sectional method ,DATA analysis software ,DESCRIPTIVE statistics ,DISEASE complications - Abstract
Background Myotonic dystrophy type 1 (DM1) is associated with increased cardiac morbidity and mortality. Therefore, assessment of cardiac involvement and risk stratification for sudden cardiac death is crucial. Nevertheless, optimal screening-procedures are not clearly defined. ECG, echocardiography and Holter-monitoring are useful but insufficient. Cardiovascular magnetic resonance (CMR) can provide additional information of which myocardial fibrosis may be relevant. The purpose of this study was to describe the prevalence of myocardial fibrosis in patients with DM1 assessed by CMR, and the association between myocardial fibrosis and abnormal findings on ECG, Holter-monitoring and echocardiography. Methods We selected 30 unrelated patients with DM1: 18 patients (10 men, mean age 51 years) with, and 12 patients (7 men, mean age 41 years) without abnormal findings on ECG and Holter-monitoring. Patients were evaluated with medical history, physical examination, ECG, Holter-monitoring, echocardiography and CMR. Results Myocardial fibrosis was found in 12/30 (40%, 9 men). The presence of myocardial fibrosis was associated with the following CMR-parameters: increased left ventricular mass (median (range) 55 g/m² (43-83) vs. 46 g/m² (36-64), p = 0.02), increased left atrial volume (median (range) 52 ml/m² (36-87) vs. 46 ml/m² (35-69), p = 0.04) and a trend toward lower LVEF (median (range) 63% (38-71) vs. 66% (60-80), p = 0.06). Overall, we found no association between the presence of myocardial fibrosis and abnormal findings on: ECG (p = 0.71), Holter-monitoring (p = 0.27) or echocardiographic measurements of left ventricular volumes, ejection fraction or global longitudinal strain (p = 0.18). Conclusion Patients with DM1 had a high prevalence of myocardial fibrosis which was not predicted by ECG, Holter-monitoring or echocardiography. CMR add additional information to current standard cardiac assessment and may prove to be a clinically valuable tool for risk stratification in DM1. [ABSTRACT FROM AUTHOR]
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- 2014
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10. Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients.
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Anvar, Seyed Yahya, 't Hoen, Peter A. C., Venema, Andrea, van der Sluijs, Barbara, van Engelen, Baziel, Snoeck, Marc, Vissing, John, Trollet, Capucine, Dickson, George, Chartier, Aymeric, Simonelig, Martine, van Ommen, Gert-Jan B., van der Maarel, Silvere M., and Raz, Vered
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MUSCULAR dystrophy ,NEUROMUSCULAR diseases ,MOLECULAR pathology ,UBIQUITIN ,CARRIER proteins - Abstract
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset progressive muscle disorder caused by a poly-alanine expansion mutation in the Poly(A) Binding Protein Nuclear 1 (PABPN1). The molecular mechanisms that regulate disease onset and progression are largely unknown. In order to identify molecular pathways that are consistently associated with OPMD, we performed an integrated high-throughput transcriptome study in affected muscles of OPMD animal models and patients. The ubiquitin-proteasome system (UPS) was found to be the most consistently and significantly OPMD-deregulated pathway across species. We could correlate the association of the UPS OPMDderegulated genes with stages of disease progression. The expression trend of a subset of these genes is ageassociated and therefore, marks the late onset of the disease, and a second group with expression trends relating to disease-progression. We demonstrate a correlation between expression trends and entrapment into PABPN1 insoluble aggregates of OPMD-deregulated E3 ligases. We also show that manipulations of proteasome and immunoproteasome activity specifically affect the accumulation and aggregation of mutant PABPN1. We suggest that the natural decrease in proteasome expression and its activity during muscle aging contributes to the onset of the disease. [ABSTRACT FROM AUTHOR]
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- 2011
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11. Limitations of muscle biopsy in Pompe disease.
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Vissing, John
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BIOPSY , *GLYCOGEN storage disease type II - Abstract
An abstract of the article "Limitations of muscle biopsy in Pompe disease" by John Vissing is presented.
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- 2013
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12. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
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Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Voermans NC, Kouwenberg CV, Laforêt P, San-Millán B, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Stemmerik MG, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, and Vissing J
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- Europe, Humans, Muscles, Registries, Glycogen Storage Disease, Glycogen Storage Disease Type V
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Background: The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed., Results: Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease)., Conclusions: The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.
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- 2020
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13. Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
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Hauerslev S, Sveen ML, Duno M, Angelini C, Vissing J, and Krag TO
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- Adolescent, Adult, Apoptosis, Biomarkers analysis, Biopsy, Blotting, Western, Calpain genetics, Denmark, Dystrophin genetics, Female, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Linear Models, Male, Middle Aged, Muscle Proteins genetics, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Muscular Dystrophies, Limb-Girdle genetics, Muscular Dystrophies, Limb-Girdle pathology, Muscular Dystrophies, Limb-Girdle physiopathology, Muscular Dystrophy, Duchenne genetics, Muscular Dystrophy, Duchenne pathology, Muscular Dystrophy, Duchenne physiopathology, Mutation, MyoD Protein analysis, Myogenin analysis, Myosin Heavy Chains analysis, Pentosyltransferases, Phenotype, Proteins genetics, Severity of Illness Index, Vimentin analysis, Young Adult, Calpain analysis, Muscle Proteins analysis, Muscle, Skeletal chemistry, Muscular Dystrophies, Limb-Girdle metabolism, Muscular Dystrophy, Duchenne metabolism, Regeneration genetics
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Background: Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most severe muscle wasting. Calpain 3 is suggested to be involved in maturation of contractile elements after muscle degeneration. The aim of this study was to investigate how mutations in the four functional domains of calpain 3 affect muscle regeneration., Methods: We studied muscle regeneration in 22 patients with LGMD2A with calpain 3 deficiency, in five patients with LGMD2I, with a secondary reduction in calpain 3, and in five patients with Becker muscular dystrophy (BMD) with normal calpain 3 levels. Regeneration was assessed by using the developmental markers neonatal myosin heavy chain (nMHC), vimentin, MyoD and myogenin and counting internally nucleated fibers., Results: We found that the recent regeneration as determined by the number of nMHC/vimentin-positive fibers was greatly diminished in severely affected LGMD2A patients compared to similarly affected patients with LGMD2I and BMD. Whorled fibers, a sign of aberrant regeneration, was highly elevated in patients with a complete lack of calpain 3 compared to patients with residual calpain 3. Regeneration is not affected by location of the mutation in the CAPN3 gene., Conclusions: Our findings suggest that calpain 3 is needed for the regenerative process probably during sarcomere remodeling as the complete lack of functional calpain 3 leads to the most severe phenotypes.
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- 2012
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