Results 221 to 230 of about 8,309 (264)

Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands. [PDF]

Acta Neurol Belg
Deenen JCW, Kools J, Greco A, Thewissen R, van de Put W, Lanser A, Joosten LAB, Verbeek ALM, van Engelen BGM, Voermans NC.   +9 more
europepmc   +1 more source

Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases. [PDF]

J Neuromuscul Dis
Rasing NB, van de Geest-Buit WA, Chan OYA, Mul K, Lanser A, van Engelen BGM, Erasmus CE, Fischer AH, Ingels KJAO, Post B, Siemann I, Groothuis JT, Voermans NC.   +12 more
europepmc   +1 more source

A novel family of lncRNAs relate facioscapulohumeral muscular dystrophy to nucleolar architecture and protein synthesis

Salsi V, Losi F, Fosso B, Ferrarini M, Pini S, Manfredi M, Vattemi G, Mongini T, Maggi L, Pesole G, Henras AK, Kaufman PD, McStay B, Tupler R.   +13 more
europepmc   +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 ...
Silvère M. van der Maarel, Rabi Tawil
openaire   +5 more sources

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 ...
Anna Pakula, Anna Pakula, Alec M. DeSimone, Charles P. Emerson, Angela Lek, Angela Lek, Angela Lek   +6 more
openaire   +4 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   +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   +5 more sources

Facioscapulohumeral muscular dystrophy

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   +1 more source

Facioscapulohumeral Muscular Dystrophies

Continuum, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscular dystrophy affecting both pediatric and adult patients. This article reviews the phenotype and pathophysiology of the disease as well as the recent efforts in clinical outcome measures and clinical trials.As the name implies, FSHD involves weakness of facial muscles, muscles that fix the
openaire   +2 more sources