Results 161 to 170 of about 8,752 (229)

Effect of genetic background on the cardiac phenotype in a mouse model of Emery-Dreifuss muscular dystrophy. [PDF]

Biochem Biophys Rep, 2019
Vignier N, Vignier N, Mougenot N, Bonne G, Muchir A.   +4 more
europepmc   +1 more source

X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. [PDF]

Genes (Basel), 2019
Viggiano E, Madej-Pilarczyk A, Carboni N, Picillo E, Ergoli M, Gaudio SD, Marchel M, Nigro G, Nigro G, Palladino A, Politano L.   +10 more
europepmc   +1 more source

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy. [PDF]

Hum Genome Var, 2019
Dai X, Zheng C, Chen X, Tang Y, Zhang H, Yan C, Ma H, Li X.   +7 more
europepmc   +1 more source

The Role of Nesprin-2 in Transcriptional Regulation [PDF]

, 2013
Herzog, Alexandra
core  

Análisis genético y molecular de las enfermedades neurológicas hereditarias [PDF]

, 1996
Palau, Francesc
core  

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Emery–Dreifuss muscular dystrophy – a 40 year retrospective

Neuromuscular Disorders, 2000
Emery-Dreifuss muscular dystrophy (EDMD) was delineated as a separate form of muscular dystrophy nearly 40 years ago, based on the distinctive clinical features of early contractures and humero-peroneal weakness, and cardiac conduction defects. The gene, STA at Xq28, for the commoner X-linked EDMD encodes a 34 kD nuclear membrane protein designated ...
A. Emery
openaire   +3 more sources

Emery-Dreifuss Muscular Dystrophy

2013
Emery-Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous muscular disease characterized by the triad of (1) early contractures of the elbows, ankles, and cervical spine; (2) humero-peroneal muscle wasting and weakness; and (3) cardiomyopathy (Emery AE, Dreifuss FE, J Neurol Neurosurg Psychiatry, 29:338–342, 1966).
N.M. MARALDI, L. MERLINI
openaire   +3 more sources

Emery-Dreifuss muscular dystrophy

The Journal of Pediatrics, 1984
Emery-Dreifuss dystrophy, an X-linked disorder, is a recently recognized distinct neuromuscular disease with special pediatric implications. We describe three affected boys with the typical early contractures and weakness. Two patients are from a large kindred that includes older affected males and carrier females, both of whom had lethal cardiac ...
R P, Dickey, F A, Ziter, R A, Smith
openaire   +2 more sources

Emery-Dreifuss Muscular Dystrophy

Seminars in Neurology, 1999
Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk
A S, Zacharias, M E, Wagener, S T, Warren, L C, Hopkins   +3 more
openaire   +2 more sources