Results 141 to 150 of about 8,752 (229)

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Human Molecular Genetics, 2009
M. Puckelwartz, E. Kessler, Yuan Zhang, D. Hodzic, K. Randles, G. Morris, Judy U Earley, Michele Hadhazy, James M. Holaska, S. Mewborn, P. Pytel, E. McNally   +11 more
semanticscholar   +1 more source

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy. [PDF]

Front Genet, 2021
Song D, Li X, Wei W, Liu X, Wu L, Xiong H.   +5 more
europepmc   +1 more source

[Emery-Dreifuss muscular dystrophy: case report].

Arquivos de neuro-psiquiatria, 2006
The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early ...
Ana Lucila Moreira, Carsten, Paulo José, Lorenzoni, Rosana Herminia, Scola, Lineu César, Werneck   +3 more
openaire   +1 more source

Cardiac Rehabilitation in a Transplanted Person with Emery-Dreifuss Muscular Dystrophy. [PDF]

Arq Bras Cardiol, 2023
Loureiro M, Branco C, Duarte J, Coutinho G, Martins MM, Novo A.   +5 more
europepmc   +1 more source

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

American Journal of Human Genetics, 2000
M. R. D. Barletta, E. Ricci, G. Galluzzi, P. Tonali, M. Mora, L. Morandi, A. Romorini, T. Voit, K. Ørstavik, L. Merlini, C. Trevisan, V. Biancalana, Irena Housmanowa-Petrusewicz, S. Bione, R. Ricotti, K. Schwartz, Giselle Bonne, D. Toniolo   +17 more
semanticscholar   +1 more source

An Omics View of Emery-Dreifuss Muscular Dystrophy. [PDF]

J Pers Med, 2020
Vignier N, Vignier N, Muchir A.
europepmc   +1 more source

Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2. [PDF]

Cureus
Debnath A, Athani B, Das J, Chandini NC.
europepmc   +1 more source

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein.

Human Molecular Genetics, 1996
S. Manilal, N. Man, C. Sewry, G. Morris
semanticscholar   +1 more source

Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke. [PDF]

Cureus
Gonçalves F, Duarte D, Reis F, Vaz A, Gomes A.   +4 more
europepmc   +1 more source

Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy: A Long-Term Longitudinal Study

Stroke, 2003
G. Boriani, M. Gallina, L. Merlini, G. Bonne, D. Toniolo, S. Amati, M. Biffi, C. Martignani, L. Frabetti, M. Bonvicini, C. Rapezzi, A. Branzi   +11 more
semanticscholar   +1 more source