Results 131 to 140 of about 8,752 (229)

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

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

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

Standard Poster Abstracts for the 17th Asia Pacific Heart Rhythm Society (APHRS) Scientific Sessions

Journal of Arrhythmia, Volume 41, Issue 2, April 2025.
wiley   +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

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

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience [PDF]

, 2015
France Leturcq, Rabah Ben Yaou
core   +1 more source

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

American Journal of Human Genetics, 2009
L. Gueneau, A. Bertrand, J. Jais, M. Salih, T. Stojkovic, M. Wehnert, M. Hoeltzenbein, S. Spuler, S. Saitoh, A. Verschueren, C. Tranchant, M. Beuvin, E. Lacène, N. Romero, S. Heath, D. Zélénika, T. Voit, B. Eymard, R. Ben Yaou, G. Bonne   +19 more
semanticscholar   +1 more source

Generation of induced pluripotent stem cell lines from patients with Emery-Dreifuss muscular dystrophy

Stem Cell Research
Emery-Dreifuss muscular dystrophy (EDMD) stems from pathogenic variants in LMNA. We generated two patient-specific iPSC lines from peripheral blood: SCVIi145-A carrying LMNA c.241T > C (p.Tyr81His) and SCVIi146-A carrying LMNA c.357-2A > G.
Mey-Sam Chorsi, Byron J.W.H. Mui, Renke Tan, Haley M. Fernandez, Lingyun Xu, Jade T. Chao, Jacinda B. Sampson, Matthew T. Wheeler, Joseph C. Wu   +8 more
doaj   +1 more source

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Journal of Clinical Investigation, 2007
A. Muchir, P. Pavlidis, V. Decostre, A. Herron, T. Arimura, G. Bonne, H. Worman   +6 more
semanticscholar   +1 more source