Results 161 to 170 of about 4,991 (181)

DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD). [PDF]

Hum Genomics
Löwenstern T, Madritsch S, Horner D, Brait N, Güleray Lafci N, Schachner A, Gerykova Bujalkova M, Kałużewski T, Szyld P, Hengstschläger M, Dremsek P, Laccone F.   +11 more
europepmc   +1 more source

Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats. [PDF]

Eur J Hum Genet
Salsi V, Losi F, Pini S, Chiara M, Tupler R.   +4 more
europepmc   +1 more source

Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
Xu X, Zheng F, Lin X, Qiu L, Chen L, Xu J, Kang L, Chen J, Wu L, Zheng Y, Zeng M, Lin X, He Q, Chen L, Lin F, Wang N, Lin M, Lyu G, Wang Z.   +18 more
europepmc   +1 more source

Facioscapulohumeral muscular dystrophy

Muscle & Nerve, 2006
AbstractFacioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer muscles results in a distinctive clinical presentation. Progression is descending, with subsequent involvement of either the distal anterior leg or hip‐girdle ...
Rabi, Tawil, Silvère M, Van Der Maarel
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Facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 2009
Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle ...
Padberg, G.W.A.M., Engelen, B.G.M. van
core   +5 more sources

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Facioscapulohumeral Muscular Dystrophy

Continuum
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy, affecting individuals across the lifespan with variable severity. This article provides an overview of the distinctive genetic mechanisms underlying FSHD, its clinical manifestations, including pediatric-specific features, treatment, and the evolving ...
Natalie K. Katz, Jeffrey M. Statland
  +5 more sources

Facioscapulohumeral muscular dystrophy

Ryoikibetsu shokogun shirizu, 2001
Abstract The defining clinical features include the onset of weakness of the facial or shoulder girdle muscles, leading eventually to the wasting of these muscles (Fig. 8.1). Significant facial weakness is evident in more than half of all affected FSHD patients.
Meena Upadhyaya, David N. Cooper
openaire   +3 more sources

Facioscapulohumeral Muscular Dystrophy

Comprehensive Physiology, 2017
ABSTRACT Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
DeSimone, Alec M., Pakula, Anna, Lek, Angela, Emerson, Charles P. Jr.   +3 more
openaire   +3 more sources

Sleep quality in Facioscapulohumeral muscular dystrophy

Journal of the Neurological Sciences, 2007
To evaluate the subjective sleep quality, the prevalence of daytime sleepiness and the risk of sleep-related upper airways obstruction in patients with genetically proven Facioscapulohumeral muscular dystrophy (FSHD). FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to ...
Della Marca, Giacomo, Frusciante, Roberto, Vollono, Catello, Dittoni, Serena, Galluzzi, G, Buccarella, C, Modoni, Anna, Mazza, Salvatore, Tonali ,Pa, Ricci, Enzo   +9 more
openaire   +4 more sources