Results 161 to 170 of about 1,438 (185)

P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy

Neuromuscular Disorders, 2023
H. Hilsden, M. James, H Gordish Dressman, J. Day, J. Mendell, R Fernandez Torron, M. Harms, A. Pestronk, J. Vissing, U. Desai, M. Yoshimura, J. Shin, T. Mozaffar, T. Stojkovic, E. Pegoraro, J Bevilacqu Raivas, M. Olive, C. Paradas, V. Straub, A. Mayhew   +19 more
openaire   +1 more source

Chronic pain as a presenting feature of dysferlinopathy

Neuromuscular Disorders
Dysferlinopathies, caused by mutations in the dysferlin gene (DYSF) encoding the dysferlin protein, are a clinically heterogeneous group of autosomal recessive muscular dystrophies whose phenotypic spectrum is still evolving. Here we described a patient reporting diffuse muscular pain non related to physical exercise, mimicking fibromyalgic syndrome ...
Lucia, Sanchez-Casado, Teresinha, Evangelista, Juliette, Nectoux, Camille, Verebi, Tanya, Stojkovic   +4 more
openaire   +2 more sources

P.188The clinical outcome study for dysferlinopathy: pregnancy in dysferlinopathy

Neuromuscular Disorders, 2019
U. Moore, M. James, M. Jacobs, A. Mayhew, S. Spuler, J. Day, D. Bharucha-Goebel, T. Stojkovic, J. Mendell, V. Straub   +9 more
openaire   +1 more source

Progress and challenges in diagnosis of dysferlinopathy.

Muscle & nerve, 2017
Dysferlin-deficient limb girdle muscular dystrophy type 2B, distal Miyoshi myopathy, and other less frequent phenotypes are a group of recessive disorders called dysferlinopathies. They are characterized by wide clinical heterogeneity. To diagnose dysferlinopathy, a clinical neuromuscular workup, including electrophysiological and muscle imaging ...
Marina, Fanin, Corrado, Angelini
openaire   +1 more source

Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

Neuropathology and Applied Neurobiology, 2022
Michela Guglieri
exaly  

Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?

Neuromuscular Disorders, 2017
M.K. James, M. Jacobs, A. Mayhew, J. Feng, S. Spuler, J.W. Day, K.J. Jones, D.X. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M.C. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz Manera, E. Pegoraro, J.R. Mendell, K. Bushby, V. Straub   +19 more
openaire   +1 more source

Molekulare Diagnostik der Dysferlinopathie

2005
Die Dysferlinopathie ist eine Erkrankung aus dem Formenkreis der Gliedergürtel-Muskel-dystrophien. Sie wird verursacht durch autosomal-rezessiv vererbte Mutationen, die drei klinisch heterogene Phänotypen verursachen können: Die Gliedergürtel-Muskeldystrophie Typ 2B (LGMD2B), die Miyoshi Myopathie (MM) und die distale anteriotibiale Myopathie (DMAT ...
openaire   +1 more source

P100 The International Dysferlinopathy Registry and an international clinical outcome study for dysferlinopathy

Neuromuscular Disorders, 2012
B. von Rekowski, G. Blandin, M. Krahn, C. Béroud, L. De Waele, K. Bushby   +5 more
openaire   +1 more source

Modeling and gene therapy of dysferlinopathy

2013
Dysferlinopathies is a group of autosomal-recessive inherited neuromuscular diseases, which are characterized by defect in mRNA expression or in functionioning of dysferlin protein, appearing in about 1/200 000 births. Dysferlin is encoded by DYSF gene (Dystrophy-associated fer-1- like).
Starostina I., Solovyeva V., Yuryeva K., Shevchenko K., Fedotov V., Rizvanov A., Deev R., Isaev A.   +7 more
openaire   +2 more sources

Dysferlinopathies

Journal of Genetic Syndromes & Gene Therapy, 2013
openaire   +1 more source