Results 161 to 170 of about 16,504 (255)

A Mutation in Lamin A/C Gene Previously Known to Cause Emery- Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B

, 2016
Albi Chalissery, Tudor Munteanu
openalex   +1 more source

Rumination Swallowing in Limb-Girdle Muscular Dystrophy. [PDF]

Cureus
Hayashi K, Mitsuhashi S, Sato M, Nakaya Y, Suzuki A, Kobayashi Y.   +5 more
europepmc   +1 more source

Misdiagnosis of polymyositis in a young female patient with occult limb-girdle muscular dystrophy. [PDF]

Rheumatol Adv Pract, 2023
Valor-Méndez L, Türk M, Schett G, Manger B, Knitza J.   +4 more
europepmc   +1 more source

Targeted Next Generation Sequencing Approach Towards Improving Genetic Diagnosis of Limb Girdle Muscular Dystrophy

, 2019
Liwen Xu
openalex   +1 more source

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

, 2019
William Lostal, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg, Heather Best, John E. Smith, Jochen Gohlke, Guillaume Corre, Xidan Li, Zaher Elbeck, Ralph Knöll, Jack‐Yves Deschamps, Henk Granzier, Isabelle Richard   +15 more
openalex   +2 more sources

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation [PDF]

, 2013
Marcella Neri, Rita Selvatici, C. Scotton, Cecilia Trabanelli, Annarita Armaroli, D. De Grandis, Nicolas Lévy, Francesca Gualandi, Alessandra Ferlini   +8 more
openalex   +1 more source

The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy. [PDF]

Cells
Valls A, Ruiz-Roldán C, Immanuel J, Alonso-Martín S, Gallardo E, Fernández-Torrón R, Bonilla M, Lersundi A, Hernández-Laín A, Domínguez-González C, Vílchez JJ, Iruzubieta P, López de Munain A, Sáenz A.   +13 more
europepmc   +1 more source

Characterization of δ-Sarcoglycan, a Novel Component of the Oligomeric Sarcoglycan Complex Involved in Limb-Girdle Muscular Dystrophy

, 1996
Daniel Jung, Franck Duclos, Barbara L. Apostol, Volker Straub, Jane C. Lee, Valérie Allamand, David Venzke, Yoshihide Sunada, Carolyn R. Moomaw, Cynthia J. Leveille, Clive A. Slaughter, Thomas O. Crawford, John D. McPherson, Kevin P. Campbell   +13 more
openalex   +1 more source

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy [PDF]

, 2013
Tohru Matsuura, Tatsuaki Kurosaki, Yoshio Omote, Narihiro Minami, Yukiko Hayashi, Ichizo Nishino, Kōji Abe   +6 more
openalex   +1 more source

Systemic MV Gene Therapy Close to Clinical Trials for Several Neuromuscular Diseases [PDF]

Wells, D J
core   +1 more source