Results 101 to 110 of about 283,904 (171)

Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy. [PDF]

Hum Mutat, 2022
Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J.   +8 more
europepmc   +1 more source

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series. [PDF]

Eur Heart J Case Rep, 2023
Kashyap N, Nikhanj A, Gagnon LR, Moukaskas B, Siddiqi ZA, Oudit GY.   +5 more
europepmc   +1 more source

Familial Testicular Germ Cell Tumor in Two Brothers With Emery Dreifuss Muscular Dystrophy Caused by an FHL-1 Mutation: A Case Report. [PDF]

Cureus, 2023
Angerer M, Wülfing C, Dieckmann KP.
europepmc   +1 more source

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

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees. [PDF]

Hum Mol Genet, 2023
de Las Heras JI, Todorow V, Krečinić-Balić L, Hintze S, Czapiewski R, Webb S, Schoser B, Meinke P, Schirmer EC.   +8 more
europepmc   +1 more source

Ptosis as Clinical Presentation in a Patient With Emery-Dreifuss Muscular Dystrophy Type 5. [PDF]

J Neuroophthalmol, 2021
Douglas KAA, Douglas VP, Gaier ED, Chwalisz BK.   +3 more
europepmc   +1 more source

Surgical Treatment for Severe Cervical Hyperlordosis and Thoracolumar Kyphoscoliosis with Emery-Dreifuss Muscular Dystrophy: A Case Report and Literature Review. [PDF]

Orthop Surg, 2022
Tang Z, Hu Z, Qin X, Zhu Z, Liu Z.
europepmc   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient. [PDF]

Front Cardiovasc Med, 2022
Perepelina K, Zaytseva A, Khudiakov A, Neganova I, Vasichkina E, Malashicheva A, Kostareva A.   +6 more
europepmc   +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