Results 71 to 80 of about 55,263 (257)

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach

Health Science Reports, 2022
This is the first national population‐based report about prenatal diagnosis for families with a history of facioscapulohumeral muscular dystrophy (FSHD), a complex hereditary disease.
M. F. Di Feo, Cinzia Bettio, V. Salsi, E. Bertucci, R. Tupler   +4 more
semanticscholar   +1 more source

FSHD myoblasts fail to downregulate intermediate filament protein vimentin during myogenic differentiation. [PDF]

, 2011
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant hereditary neuromuscular disorder. The clinical features of FSHD include weakness of the facial and shoulder girdle muscles followed by wasting of skeletal muscles of the pelvic ...
Barat A. L., Cochet E., Dmitriev P. V., Laoudj-Chenivesse D., Lipinski M., Ogryzko V. V., Vassetzky Y. S.   +6 more
core   +2 more sources

Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy

Journal of Neurology, 2022
To evaluate the 5-year change in respiratory function in patients with facioscapulohumeral muscular dystrophy (FSHD). Genetically confirmed patients with FSHD aged ≥ 18 years were examined twice over five years.
S. Teeselink, S. Vincenten, N. Voermans, J. Groothuis, J. Doorduin, P. Wijkstra, C. Horlings, B. V. van Engelen, K. Mul   +8 more
semanticscholar   +1 more source

DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation [PDF]

, 2008
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease. It maps to the D4Z4 repeat array at 4q35, and correlates with a repeat contraction which derepresses transcription of local genes. Which, if any, of these genes
Darko Bosnakovski, Sarah Lamb, Tugba Simsek, Zhaohui Xu, Alexandra Belayew, Rita Perlingeiro, Michael Kyba, Ansseau, Bajard, Buckingham, Celegato, Dixit, Gabellini, Gabellini, Gabriels, Hessabi, Hewitt, Kowaljow, Naviaux, Ostlund, Rudnicki, Tajbakhsh, Weintraub, Wijmenga, Winokur, Winokur, Wright   +26 more
core   +1 more source

Dysphagia in facioscapulohumeral muscular dystrophy [PDF]

Neurology, 2006
Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The authors conclude that dysphagia should not be considered an
Wohlgemuth, M., Swart, B.J.M. de, Kalf, J.G., Joosten, F.B.M., Vliet, A.M. van der, Padberg, G.W.A.M.   +5 more
openaire   +3 more sources

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and ...
Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans   +8 more
doaj   +1 more source

An integrated approach in a case of facioscapulohumeral dystrophy [PDF]

, 2014
BACKGROUND: Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy.No therapy is available for FSHD.
Berardinelli, Angela, D'Antona, Giuseppe, Giovanetti, Giuseppe, Longa, Emanuela, Magnani, Bruno, Pasotti, Stefano, Rossi, Albino, TUPLER, Rossella   +7 more
core   +1 more source

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Clinical Genetics
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical ...
E. Giardina, Pilar Camaño, Sarah Burton-Jones, G. Ravenscroft, F. Henning, F. Magdinier, N. van der Stoep, Patrick J van der Vliet, Rafaëlle Bernard, P. Tomaselli, Mark R. Davis, Ichizo Nishino, P. Oflazer, Valerie Race, V. Vishnu, Victoria Williams, C. Sobreira, Silvère M. van der Maarel, Steve A Moore, N. Voermans, Richard J L F Lemmers   +20 more
semanticscholar   +1 more source

Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy.

Brain : a journal of neurology, 2021
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscular dystrophies characterized by considerable variability in severity, rates of progression and functional outcomes. Few studies follow FSHD cohorts long enough to understand
N. Katz, J. Hogan, Ryan Delbango, C. Cernik, R. Tawil, J. Statland   +5 more
semanticscholar   +1 more source