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Your search keyword '"Van Der Kooi A. J."' showing total 31 results
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31 results on '"Van Der Kooi A. J."'

1. Oral ribose supplementation in dystroglycanopathy: A single case study

Author

Thewissen, R. M. J., primary, Post, M. A., additional, Maas, D. M., additional, Veizaj, R., additional, Wagenaar, I., additional, Alsady, M., additional, Kools, J., additional, Bouman, K., additional, Zweers, H., additional, Meregalli, P. G., additional, van der Kooi, A. J., additional, van Doorn, P. A., additional, Groothuis, J. T., additional, Lefeber, D. J., additional, and Voermans, N. C., additional

Published
2024
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5. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

Author

Naumann, Marcel, primary, Peikert, Kevin, additional, Günther, Rene, additional, van der Kooi, Anneke J., additional, Aronica, Eleonora, additional, Hübers, Annemarie, additional, Danel, Veronique, additional, Corcia, Philippe, additional, Pan‐Montojo, Francisco, additional, Cirak, Sebahattin, additional, Haliloglu, Göknur, additional, Ludolph, Albert C., additional, Goswami, Anand, additional, Andersen, Peter M., additional, Prudlo, Johannes, additional, Wegner, Florian, additional, Van Damme, Philip, additional, Weishaupt, Jochen H., additional, and Hermann, Andreas, additional

Published
2019
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7. Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

Author

ten Dam, Leroy, primary, Frankhuizen, Wendy S., additional, Linssen, Wim H.J.P., additional, Straathof, Chiara S., additional, Niks, Erik H., additional, Faber, Karin, additional, Fock, Annemarie, additional, Kuks, Jan B., additional, Brusse, Esther, additional, de Coo, René, additional, Voermans, Nicol, additional, Verrips, Aad, additional, Hoogendijk, Jessica E., additional, van der Pol, Ludo, additional, Westra, Dineke, additional, de Visser, Marianne, additional, van der Kooi, Anneke J., additional, and Ginjaar, Ieke, additional

Published
2019
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9. Protocol of a dose response trial of IV immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy (DRIP study)

Author

Kuitwaard, Krista, primary, Fokkink, Willem-Jan R., additional, Brusse, Esther, additional, Vrancken, Alexander F. J. E., additional, Eftimov, Filip, additional, Notermans, Nicolette C., additional, van der Kooi, Anneke J., additional, Merkies, Ingemar S. J., additional, Jacobs, Bart C., additional, and van Doorn, Pieter A., additional

Published
2017
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12. Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

Author

Straathof, Chiara S.M., primary, Van Heusden, Dave, additional, Ippel, Pieternella F., additional, Post, Jan G., additional, Voermans, Nicol C., additional, De Visser, Marianne, additional, Brusse, Esther, additional, Van Den Bergen, Janneke C., additional, Van Der Kooi, Anneke J., additional, Verschuuren, Jan J.G.M., additional, and Ginjaar, Hendrika B., additional

Published
2015
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19. Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

Author

van Rijsingen, Ingrid A.W., primary, Nannenberg, Eline A., additional, Arbustini, Eloisa, additional, Elliott, Perry M., additional, Mogensen, Jens, additional, Hermans-van Ast, Johanna F., additional, van der Kooi, Anneke J., additional, van Tintelen, J. Peter, additional, van den Berg, Maarten P., additional, Grasso, Maurizia, additional, Serio, Alessandra, additional, Jenkins, Sharon, additional, Rowland, Camilla, additional, Richard, Pascale, additional, Wilde, Arthur A.M., additional, Perrot, Andreas, additional, Pankuweit, Sabine, additional, Zwinderman, Aeilko H., additional, Charron, Philippe, additional, Christiaans, Imke, additional, and Pinto, Yigal M., additional

Published
2013
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21. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Author

van Es, Michael A., primary, Schelhaas, Helenius J., additional, van Vught, Paul W. J., additional, Ticozzi, Nicola, additional, Andersen, Peter M., additional, Groen, Ewout J. N., additional, Schulte, Claudia, additional, Blauw, Hylke M., additional, Koppers, Max, additional, Diekstra, Frank P., additional, Fumoto, Katsumi, additional, LeClerc, Ashley Lyn, additional, Keagle, Pamela, additional, Bloem, Bastiaan R., additional, Scheffer, Hans, additional, van Nuenen, Bart F. L., additional, van Blitterswijk, Marka, additional, van Rheenen, Wouter, additional, Wills, Anne‐Marie, additional, Lowe, Patrick P., additional, Hu, Guo‐fu, additional, Yu, Wenhao, additional, Kishikawa, Hiroko, additional, Wu, David, additional, Folkerth, Rebecca D., additional, Mariani, Claudio, additional, Goldwurm, Stefano, additional, Pezzoli, Gianni, additional, Van Damme, Philip, additional, Lemmens, Robin, additional, Dahlberg, Caroline, additional, Birve, Anna, additional, Fernández‐Santiago, Rubén, additional, Waibel, Stefan, additional, Klein, Christine, additional, Weber, Markus, additional, van der Kooi, Anneke J., additional, de Visser, Marianne, additional, Verbaan, Dagmar, additional, van Hilten, Jacobus J., additional, Heutink, Peter, additional, Hennekam, Eric A. M., additional, Cuppen, Edwin, additional, Berg, Daniela, additional, Brown, Robert H., additional, Silani, Vincenzo, additional, Gasser, Thomas, additional, Ludolph, Albert C., additional, Robberecht, Wim, additional, Ophoff, Roel A., additional, Veldink, Jan H., additional, Pasterkamp, R. Jeroen, additional, de Bakker, Paul I. W., additional, Landers, John E., additional, van de Warrenburg, Bart P., additional, and van den Berg, Leonard H., additional

Published
2011
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23. The phenotype of the Gly94fsX222 PMP22 insertion

Author

de Vries, Sara D. J., primary, Verhamme, Camiel, additional, van Ruissen, Fred, additional, van Paassen, Barbara W., additional, Arts, Willem F., additional, Kerkhoff, Henk, additional, van Engelen, Baziel G. M., additional, Lammens, Martin, additional, de Visser, Marianne, additional, Baas, Frank, additional, and van der Kooi, Anneke J., additional

Published
2011
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26. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

Author

Naumann, Marcel, Peikert, Kevin, Guenther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Huebers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Goeknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., Hermann, Andreas, Naumann, Marcel, Peikert, Kevin, Guenther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Huebers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Goeknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., and Hermann, Andreas

Abstract

Objective Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS-ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype-phenotype correlations and malignancy rates in a newly compiled FUS-ALS cohort. Methods We cross-sectionally reviewed FUS-ALS patient histories in a multicenter cohort with 36 novel cases and did a meta-analysis of published FUS-ALS cases reporting the largest genotype-phenotype correlation of FUS-ALS. Results The age of onset (median 39 years, range 11-80) was positively correlated with the disease duration. C-terminal domain mutations were found in 90%. Among all, P525L and truncating/ frameshift mutations most frequently caused juvenile onset, rapid disease progression, and atypical ALS often associated with negative family history while the R521 mutation site was associated with late disease onset and pure spinal phenotype. Malignancies were found in one of 40 patients. Interpretation We report the largest genotype-phenotype correlation of FUS-ALS, which enables a careful prediction of the clinical course in newly diagnosed patients. In this cohort, FUS-ALS patients did not have an increased risk for malignant diseases.

27. Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

Author

Naumann, Marcel, Peikert, Kevin, Guenther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Huebers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Goeknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., Hermann, Andreas, Naumann, Marcel, Peikert, Kevin, Guenther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Huebers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Goeknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., and Hermann, Andreas

Abstract

Objective Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset. FUS aggregation, DNA repair deficiency, and genomic instability are contributors to the pathophysiology of FUS-ALS, but their clinical significance per se and their influence on the clinical variability have yet to be sufficiently investigated. The aim of this study was to analyze genotype-phenotype correlations and malignancy rates in a newly compiled FUS-ALS cohort. Methods We cross-sectionally reviewed FUS-ALS patient histories in a multicenter cohort with 36 novel cases and did a meta-analysis of published FUS-ALS cases reporting the largest genotype-phenotype correlation of FUS-ALS. Results The age of onset (median 39 years, range 11-80) was positively correlated with the disease duration. C-terminal domain mutations were found in 90%. Among all, P525L and truncating/ frameshift mutations most frequently caused juvenile onset, rapid disease progression, and atypical ALS often associated with negative family history while the R521 mutation site was associated with late disease onset and pure spinal phenotype. Malignancies were found in one of 40 patients. Interpretation We report the largest genotype-phenotype correlation of FUS-ALS, which enables a careful prediction of the clinical course in newly diagnosed patients. In this cohort, FUS-ALS patients did not have an increased risk for malignant diseases.

28. Randomized trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polyradiculoneuropathy.

Author

Kuitwaard K, Brusse E, Jacobs BC, Vrancken AFJE, Eftimov F, Notermans NC, van der Kooi AJ, Fokkink WR, Nieboer D, Lingsma HF, Merkies ISJ, and van Doorn PA

Subjects
Cross-Over Studies, Hand Strength, Humans, Immunoglobulins, Intravenous, Quality of Life, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating drug therapy
Abstract

Background and Purpose: High peak serum immunoglobulin G (IgG) levels may not be needed for maintenance intravenous immunoglobulin (IVIg) treatment in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and such high levels may cause side effects. More frequent lower dosing may lead to more stable IgG levels and higher trough levels, which might improve efficacy. The aim of this trial is to investigate whether high frequent low dosage IVIg treatment is more effective than low frequent high dosage IVIg treatment., Methods: In this randomized placebo-controlled crossover trial, we included patients with CIDP proven to be IVIg-dependent and receiving an individually established stable dose and interval of IVIg maintenance treatment. In the control arm, patients received their individual IVIg dose and interval followed by a placebo infusion at half the interval. In the intervention arm, patients received half their individual dose at half the interval. After a wash-out phase patients crossed over. The primary outcome measure was handgrip strength (assessed using a Martin Vigorimeter). Secondary outcome indicators were health-related quality of life (36-item Short-Form Health Survey), disability (Inflammatory Rasch-built Overall Disability Scale), fatigue (Rasch-built Fatigue Severity Scale) and side effects., Results: Twenty-five patients were included and were treated at baseline with individually adjusted dosages of IVIg ranging from 20 to 80 g and intervals ranging from 14 to 35 days. Three participants did not complete the trial; the main analysis was therefore based on the 22 patients completing both treatment periods. There was no significant difference in handgrip strength change from baseline between the two treatment regimens (coefficient -2.71, 95% CI -5.4, 0.01). Furthermore, there were no significant differences in any of the secondary outcomes or side effects., Conclusions: More frequent lower dosing does not further improve the efficacy of IVIg in stable IVIg-dependent CIDP and does not result in fewer side effects., (© 2020 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2021
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29. Diagnostic value of additional histopathological fascia examination in idiopathic inflammatory myopathies.

Author

Lim J, Eftimov F, Raaphorst J, Aronica E, and van der Kooi AJ

Subjects
Humans, Immunohistochemistry, Inflammation pathology, Magnetic Resonance Imaging, Myositis diagnostic imaging, Myositis pathology, Fascia pathology, Muscle, Skeletal pathology, Myositis diagnosis
Abstract

Background and Purpose: Correct diagnosis of idiopathic inflammatory myopathies (IIM) may prevent harm from both lack of treatment in IIM patients and unnecessary treatment in non-IIM patients. However, it is unknown whether additional histopathological fascia examination may contribute to diagnosing IIM., Methods: Thirty-two magnetic resonance imaging guided en bloc biopsies from patients diagnosed with IIM (except inclusion body myositis) from 2010 to 2017 were reviewed: dermatomyositis (DM) (n = 6), non-specific/overlap myositis (NM/OM) (n = 11), immune-mediated necrotizing myopathy (n = 12) and anti-synthetase syndrome (n = 3). Muscle biopsy specimens were examined according to the 2004 European Neuromuscular Centre (ENMC) criteria. Fascia was subsequently examined for the presence of lymphocytic infiltrates. Isolated fascia involvement was defined as the presence of lymphocytic infiltrates in the fascia/epimysium on histopathology in the absence of any ENMC muscle histopathology/immunohistochemistry criteria., Results: One patient with DM (17%) and one patient with NM/OM (9%) had isolated fascia involvement. One patient with immune-mediated necrotizing myopathy (8%) and one patient with anti-synthetase syndrome (33%) had fascia involvement, albeit in combination with muscle involvement., Conclusion: Histopathological fascia examination may contribute to early diagnosis of DM and NM/OM in a small proportion of patients., (© European Academy of Neurology 2019.)

Published
2019
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31. Prose memory impairment in amyotrophic lateral sclerosis patients is related to hippocampus volume.

Author

Raaphorst J, van Tol MJ, de Visser M, van der Kooi AJ, Majoie CB, van den Berg LH, Schmand B, and Veltman DJ

Subjects
Aged, Atrophy pathology, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Amyotrophic Lateral Sclerosis pathology, Amyotrophic Lateral Sclerosis physiopathology, Hippocampus pathology, Hippocampus physiopathology, Memory Disorders pathology, Memory Disorders physiopathology
Abstract

Background and Purpose: Thirty per cent of amyotrophic lateral sclerosis (ALS) patients have non-motor symptoms, including executive and memory deficits. The in vivo anatomical basis of memory deficits in ALS has not been elucidated. In this observational study, brain atrophy in relation to memory function was investigated in ALS patients and controls., Methods: Twenty-six ALS patients without dementia and 21 healthy volunteers matched for gender, age and education level underwent comprehensive neuropsychological evaluation and T1- and T2-weighted 3 T magnetic resonance imaging scanning of the brain. Grey and white matter brain volumes were analysed using voxel-based morphometry and age related white matter changes were assessed. The most frequently abnormal memory test (<2 SD below normative data corrected for age, gender and education) was correlated with regional brain volume variations by multiple regression analyses with age, gender and total grey matter volumes as covariates., Results: Immediate and delayed story recall scores were abnormal in 23% of ALS patients and correlated to bilateral hippocampus grey matter volume (r = 0.52 for both memory tests; P < 0.05; corrected for age, gender and total grey matter volume). This correlation was not found in healthy controls with similar age, education, anxiety and depression levels and white matter changes., Conclusions: Prose memory impairment is a frequent finding in this cohort and is associated with hippocampus volume in ALS patients without dementia. These findings complement previous hippocampus changes in imaging studies in ALS and suggest involvement of the hippocampus in cognitive dysfunction of ALS., (© 2014 EAN.)

Published
2015
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