Results 201 to 210 of about 55,263 (257)

Matrix metalloproteinases are hallmark early biomarkers and therapeutic targets in FSHD. [PDF]

JCI Insight
Jung U, Wei E, Ahsan H, Mitanoska A, Chen K, Kyba M, Bosnakovski D.   +6 more
europepmc   +1 more source

Neuromuscular diseases: genomics-driven advances. [PDF]

Genomics Inform
Cho A.
europepmc   +1 more source

Transposon expression and repression in skeletal muscle. [PDF]

Mob DNA
Borok MJ, Zaidan L, Relaix F.
europepmc   +1 more source

Correction: Facioscapulohumeral muscular dystrophy.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
Jana, Pospisilova, Bård, Bjørnarå, Kari Anne, Bjørnarå   +2 more
openaire   +1 more source

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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

Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping

Current Protocols, 2023
The introduction of optical genome mapping has improved time constraints and a lack of specificity from previous methodologies when performing genome‐wide analyses of samples.
Pratik Koppikar, S. Shenoy, Naga M Guruju, Madhuri Hegde   +3 more
semanticscholar   +1 more source

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Brain : a journal of neurology, 2022
Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common muscular dystrophy.
Hannes Erdmann, Florentine Scharf, Stefanie Gehling, A. Benet-Pagès, S. Jakubiczka, K. Becker, M. Seipelt, F. Kleefeld, K. Knop, E. Prott, M. Hiebeler, F. Montagnese, D. Gläser, M. Vorgerd, T. Hagenacker, M. Walter, P. Reilich, T. Neuhann, M. Zenker, E. Holinski-Feder, B. Schoser, A. Abicht   +21 more
semanticscholar   +1 more source

Facioscapulohumeral Muscular Dystrophy

Comprehensive Physiology, 2017
ABSTRACTFacioscapulohumeral 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. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex ...
DeSimone, Alec M., Pakula, Anna, Lek, Angela, Emerson, Charles P. Jr.   +3 more
openaire   +3 more sources