Results 111 to 120 of about 4,991 (181)

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.

, 2001
Item does not contain fulltextFacioscapulohumeral muscular dystrophy is caused by partial deletion of the D4Z4 repeat array on chromosome 4q35. Genetic diagnosis is based on sizing of this repeat array, which is complicated by cross-hybridization of a ...
Maarel, S.M. van der, Bakker, E., Wielen, M.J.R. van der, Padberg, G.W.A.M., Kievit, P. de, Geel, M. van, Frants, R.R.   +6 more
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Facioscapulohumeral muscular dystrophy. Report of seven patients [PDF]

, 2015
Artículo de publicación ISIBackground: Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy with an estimated prevalence of 1 per 20.000 and a normal life expectancy in the majority of patients. However, approximately 15%
Jiménez Espinoza, Daniel, Cea Muñoz, Gabriel   +1 more
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Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy : a case report

: Chronic sarcoid myopathy is a rare disorder characterized by intramuscular granulomas and generally presents with symmetrical proximal limb-girdle muscle weakness.
Baets, Jonathan, De Ridder, Willem, Hoffbauer, Kathleen   +2 more
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The history of research on facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj  

Facioscapulohumeral disease

, 1982
The purpose of this study is to discuss several aspects of facioscapulohumeral disease, also called "autosomal dominant facioscapulohumeral muscular dystrophy" or "Landouzy-Dejerine type of muscular dystrophy" or "Landouzy-Dejerine' s disease" .
Padberg, G.W.A.M.
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P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy

Genetics in Medicine Open, 2023
Hagit Shani, Baruch Feldman, Noa Harel Inbar, Haike Reznik-Wolf, Elon Pras   +4 more
doaj   +1 more source

Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. [PDF]

PeerJ
Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z.   +7 more
europepmc   +1 more source

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +1 more source

Assessment of Depression Onset and Prevalence in Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSDH)

, 2019
Prevalence and onset of depression in myotonic dystrophy and facioscapulohumeral dystrophy patients Purpose: Myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) are the most common types of muscle dystrophies, categorized by both muscle ...
Cusack, Elizabeth, Parkhill, Amy
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Clinical Care and Rehabilitation in Neuromuscular Disorders-Why It Highly Matters. [PDF]

J Clin Med
Gdynia HJ.
europepmc   +1 more source