Results 91 to 100 of about 283,904 (179)

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

Emery-Dreifuss muscular dystrophy [PDF]

, 2020
openaire   +3 more sources

Distrofia muscular Emery-Dreifuss tipo 1: um desafio diagnóstico sobre um caso [PDF]

Emery-Dreifuss muscular dystrophy is a rare degenerative myopathy with a global incidence of 1 in 100. 000, clinically characterized by the triad of contractures in the elbows, ankles, and rigid spine with cervical onset and muscular atrophy with ...
Maria Camila Gutierrez Vargas, Ostos Alfonso, Henry, Paloma Catalina Ostos Gonzalez, Henry Ostos Alfonso, Gutierrez Vargas, Maria Camila, Ostos Gonzalez, Paloma Catalina   +5 more
core   +1 more source

Emery–Dreifuss muscular dystrophy: a test case for precision medicine

, 2016
De-Ann M Pillers,1 Nicholas H Von Bergen21Division of Neonatology and Newborn Medicine, 2Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USAAbstract: Emery–Dreifuss muscular dystrophy (EDMD) is ...
Von Bergen NH, Pillers DAM
core  

The spatial relationship of human chromosomes within the nuclei of normal and emerin-mutant cells

, 2001
Mahy, N, Gilchrist, S, Boyle, S, Bridger, JM, Bickmore, WA, Ellis, J   +5 more
core   +6 more sources

Emery–Dreifuss muscular dystrophy: a closer look at cardiac complications

European Heart Journal, 2023
Daria Kramarenko, Roddy Walsh
openaire   +2 more sources

Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy, Dunnigan variety due to heterozygous <i>LMNA</i> variants. [PDF]

J Endocr Soc
Anum, Li X, Brown RJ, Garg A.
europepmc   +1 more source

Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy, from Arrhythmias to Heart Failure and Sudden Death: A Contemporary Review. [PDF]

J Clin Med
Granata LG, Lo Nigro MC, Cipolla F, Ferrara N, Napoli AR, Marchetta M, Giubilato S, Crea P, Dattilo G, Trio O, Andò G, Gregorio C, Francese GM.   +12 more
europepmc   +1 more source

Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy. [PDF]

Stem Cell Res
Chorsi MS, Mui BJWH, Tan R, Fernandez HM, Xu L, Chao JT, Sampson JB, Wheeler MT, Wu JC.   +8 more
europepmc   +1 more source

Twenty-Five-Year Follow-Up of the MDDC1 Family: A <i>LMNA</i> Gene Variant Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement. [PDF]

Circ Genom Precis Med
Capovilla TM, Iseppi M, Distaso S, Gigli M, Dal Ferro M, Moretti M, Iorio A, Mancinelli A, Merlo M, Mestroni L, Paldino A, Sinagra G.   +11 more
europepmc   +1 more source