Results 171 to 180 of about 12,800 (285)

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy [PDF]

, 2016

openalex   +1 more source

Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report. [PDF]

Clin Case Rep
Zhao C, Li Y, Li J, Xiong J.
europepmc   +1 more source

First Identification of CGG-Repeat Expansions in <i>LRP12</i> in Korean Families With Oculopharyngodistal Myopathy Type 1. [PDF]

J Clin Neurol
Lee K, Mitsutake A, Ishiura H, Park HJ.
europepmc   +1 more source

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy [PDF]

, 2011
Rachael M. Duff, Valerie S. Tay, Peter Hackman, Gianina Ravenscroft, Catriona McLean, Paul Kennedy, Alina Steinbach, Wiebke Schöffler, Peter F. M. van der Ven, Dieter O. Fürst, Jae-Geun Song, Kristina Djinović‐Carugo, Sini Penttilä, Olayinka Raheem, Katrina Reardon, Alessandro Malandrini, S. Gambelli, Marcello Villanova, Kristen L. Nowak, David R. Williams, John E. Landers, Robert Brown, Bjarne Udd, Nigel G. Laing   +23 more
openalex   +1 more source

Immune Myositis Complicating Follicular Lymphoma: Case Report. [PDF]

Reports (MDPI)
Zacharia GS, Ajai Mokan Dasan SL, Iwuaba C.   +2 more
europepmc   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles [PDF]

, 2011
Honghao Li, Qi Chen, Fuchen Liu, Xuemei Zhang, Tao Liu, Wei Li, Shuping Liu, Yuying Zhao, Bing Wen, Tingjun Dai, Pengfei Lin, Yaoqin Gong, Chuanzhu Yan   +12 more
openalex   +1 more source

Gower laing: Early adult onset distal myopathy type III (MPD I): a case report

, 2021
Sritharan Thivacaren, A. A. A. Suramiya, A. Paherathy, Ajini Arasalingam   +3 more
openalex   +2 more sources

Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy. [PDF]

Cureus
Alyami NH, Musallam SH, Al Greshah H, Alabatahee N, Alyami T, Al Abdali A.   +5 more
europepmc   +1 more source