Results 131 to 140 of about 3,828 (168)

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy. [PDF]

Brain
Franken M, van der Wal E, Zheng D, den Hamer B, van der Vliet PJ, Lemmers RJLF, van den Heuvel A, Dorn AL, Duivenvoorden CGA, In 't Groen SLM, Freund C, Eussen B, Tawil R, van Engelen BGM, Pijnappel WWMP, van der Maarel SM, de Greef JC.   +16 more
europepmc   +1 more source

Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review. [PDF]

AIMS Neurosci
Ansari U, Nadora D, Ong L, Sedighi R, Tabaie E, Ansari Z, Alam M, Syed B, Amani N, Preiss-Farzanegan S.   +9 more
europepmc   +1 more source

All-in-one vectors for epigenetic CRISPR inhibition of <i>DUX4-fl</i> in facioscapulohumeral muscular dystrophy. [PDF]

Mol Ther Methods Clin Dev
Himeda CL, Jones TI, Jones PL.
europepmc   +1 more source

Mitochondrial Respiratory Chain Function is crucial for Muscle Toxicity in Facioscapulohumeral Muscular Dystrophy

Heher P, Pfeiffer-Vogl J, Ganassi M, Fulea R, McGuire L, Engquist EN, Tyszkiewicz M, Prueller J, Grillari J, Tasca G, Banerji CR, Zammit PS.   +11 more
europepmc   +1 more source

Facioscapulohumeral Muscular Dystrophy [PDF]

Neurologic Clinics, 2014
This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey Statland, Rabi Tawil
exaly   +6 more sources

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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
  +5 more sources

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
openaire   +4 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

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