Results 11 to 20 of about 275,647 (194)

Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials

Cells, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the ...
M. Ghasemi, C. Emerson, L. Hayward
semanticscholar   +2 more sources

Genetics of Facioscapulohumeral Muscular Dystrophy

Pediatric Neurology Briefs, 1991
More than 500 subjects from 41 families with dominantly inherited facioscapulohumeral muscular dystrophy (FSHD) were studied at the Royal Hospital for Sick Children, St. Michael’s Hill, Bristol and the University of Wales College of Medicine, Heath Park,
J Gordon Millichap
doaj   +2 more sources

Dysphagia in facioscapulohumeral muscular dystrophy [PDF]

Neurology, 2006
Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy (FSHD). In this study, the authors found that dysphagia does occur in patients with advanced FSHD showing mild involvement of the jaw and lingual muscles. Dysphagia is seldom life threatening in these patients. The authors conclude that dysphagia should not be considered an
Wohlgemuth, M., Swart, B.J.M. de, Kalf, J.G., Joosten, F.B.M., Vliet, A.M. van der, Padberg, G.W.A.M.   +5 more
openaire   +4 more sources

Facioscapulohumeral Muscular Dystrophy

Neurotherapeutics, 2004
Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions.
Upadhyaya, Meena, Cooper, David Neil
core   +7 more sources

A 12‐Year‐Old Child With a Sunken Sternum and Progressive Muscle Weakness: A Case Report

Clinical Case Reports
A 12‐year‐old girl with facioscapulohumeral muscular dystrophy and severe pectus excavatum presented with progressive dyspnea and restrictive ventilatory impairment. She underwent successful Nuss repair with uneventful recovery.
Siman Chen, Chenghao Chen, Qi Zeng
doaj   +2 more sources

Upper girdle imaging in facioscapulohumeral muscular dystrophy. [PDF]

PLoS ONE, 2014
BackgroundIn Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination.
Giorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, Francesco Laschena, Pierfrancesco Ottaviani, Emanuele Leoncini, Stefania Boccia, Giuliana Galluzzi, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Eugenio Mercuri, Enzo Ricci   +12 more
doaj   +2 more sources

[Facioscapulohumeral muscular dystrophy]. [PDF]

Nederlands tijdschrift voor tandheelkunde, 2010
Facioscapulohumeral muscular dystrophy is clinically mainly characterized by progressive weakness of the facial, shoulder and upper arm muscles. It is an autosomal dominant heriditary disease, caused by a contraction of a repetitive DNA element at the end of the long arm of chromosome 4.
Wilbers, J., Frants, R.R., Engelen, B.G.M. van, Padberg, G.W.A.M., Maarel, S.M. van der   +4 more
core   +4 more sources

A Case of Facioscapulohumeral Muscular Dystrophy [PDF]

International Journal of Medical Students
Background: Facioscapulohumeral muscular dystrophy (FSHMD) is a genetically determined, progressive skeletal muscle disorder characterized by a distinctive pattern of muscle involvement, variable clinical severity, and significant diagnostic challenges.
Neha Sahota, Shubreet Randhawa
doaj   +4 more sources

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Liu, X, Vinciotti, V, Hoen, PAC't, Tucker, A   +3 more
core   +6 more sources

First person – Andreia Nunes

Disease Models & Mechanisms, 2021
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Andreia Nunes is first author on ‘ Identification
doaj   +1 more source