Results 11 to 20 of about 7,807 (220)

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features. [PDF]

Eur J Neurol
ABSTRACT Background and Objectives Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial ...
Torchia E, Vandeputte P, Monforte M, Gillet C, Verny C, Bernard R, Tasca G, Spinazzi M.   +7 more
europepmc   +3 more sources

miRNA expression in control and FSHD fetal human muscle biopsies. [PDF]

PLoS ONE, 2015
BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal FSHD biopsies, thus ...
Débora Morueco Portilho, Marcelo Ribeiro Alves, Gueorgui Kratassiouk, Stéphane Roche, Frédérique Magdinier, Eliane Corrêa de Santana, Anna Polesskaya, Annick Harel-Bellan, Vincent Mouly, Wilson Savino, Gillian Butler-Browne, Julie Dumonceaux   +11 more
doaj   +11 more sources

FSHD [PDF]

Neuromuscular Disorders, 2021
B. Porter, R. Orrell, A. Graham, S. Watt, P. Lunt, F. Norwood, M. Roberts, T. Willis, E. Matthews, R. Muni-Lofra, C. Marini-Bettolo   +10 more
  +24 more sources

Adaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation [PDF]

Scientific Reports
Facioscapulohumeral dystrophy (FSHD) is one of the most common muscular dystrophies with no effective treatment. The disease is linked to abnormal derepression of DUX4 embryonic transcription factor in skeletal muscle, but at very low frequency. How this
Xiangduo Kong, Ananya Rajagopal, Skylar Renee Foust, Jonovan Osorio, Ali Mortazavi, Anna Grosberg, Kyoko Yokomori   +6 more
doaj   +2 more sources

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD [PDF]

, 2015
Background: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2).
B Mifsud, C Huichalaf, C Wijmenga, E Lieberman-Aiden, I Dunham, J Dekker, J Winston, KS Pollard, L Daxinger, LM Hartweck, M Larsen, M Richards, M Upadhyaya, MP Creyghton, N Harmston, R Andersson, RE Thurman, RJ Lemmers, RJ Lemmers, RJ Lemmers, S Bhatia, S Sacconi, SE Hamby, SS Rao, TI Jones, W Zeng, Z Yao   +26 more
core   +4 more sources

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   +3 more sources

Gene expression during normal and FSHD myogenesis

BMC Medical Genomics, 2011
Background Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contraction of an array of tandem 3.3-kb repeats (D4Z4) at 4q35. Within each repeat unit is a gene, DUX4, that can encode a protein containing two homeodomains.
Sowden Janet, Chittur Sridar V, Baribault Carl, Lacey Michelle, Chang Shao-Chi, Tsumagari Koji, Tawil Rabi, Crawford Gregory E, Ehrlich Melanie   +8 more
doaj   +2 more sources

Chemical inhibition of SUMOylation activates the FSHD locus. [PDF]

Sci Rep
Nordlinger A, Morin L, Andrieux A, Trani JP, Perrin P, Eudes N, Bigot A, Dejean A, Magdinier F.   +8 more
europepmc   +3 more sources

Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature. [PDF]

Eur J Neurol
ABSTRACT Background Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well‐known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co‐occurrence of MG with FSHD is the most common, representing a non‐negligible “double trouble”.
Tammam G, Villa L, Lemmers RJLF, Pini J, Slioui A, Bouchareychas L, David Y, Ioncea MB, Salviati L, Cavalli M, Ezaru A, Puma A, Verschuuren JJ, van der Maarel SM, Sacconi S.   +14 more
europepmc   +2 more sources

Response to: Disentangling Facioscapulohumeral Muscular Dystrophy Disability From Age and Comorbidities: A Call for Refined Stratification. [PDF]

Eur J Neurol
European Journal of Neurology, Volume 32, Issue 11, November 2025.
Teeselink S, Mul K.
europepmc   +2 more sources