Results 151 to 160 of about 17,793 (220)

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity. [PDF]

J Clin Invest
Buvoli M, Wilson GC, Buvoli A, Gugel JF, Hau A, Bönnemann CG, Paradas C, Ryba DM, Woulfe KC, Walker LA, Buvoli T, Ochala J, Leinwand LA.   +12 more
europepmc   +1 more source

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis. [PDF]

Brain
Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, Emerit A, Errazuriz-Cerda E, Michel-Calemard L, Menassa R, Coudert L, Wiessner M, Stucka R, Klopstock T, Simonetti F, Hutten S, Nonaka T, Hasegawa M, Strom TM, Bernard E, Ollagnon E, Urtizberea A, Dormann D, Petiot P, Schaeffer L, Senderek J, Leblanc P.   +28 more
europepmc   +1 more source

Dominant collagen XII mutations cause a distal myopathy. [PDF]

Ann Clin Transl Neurol, 2019
Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG.   +21 more
europepmc   +1 more source

RYR1 causing distal myopathy. [PDF]

Mol Genet Genomic Med, 2017
Laughlin RS, Niu Z, Wieben E, Milone M.
europepmc   +1 more source

A novel MYH7 mutation resulting in Laing distal myopathy in a Chinese family. [PDF]

Chin Med J (Engl), 2019
Liu XY, Zhang YS, Sun AP, Zhong YF, Zheng DF, Fan DS.   +5 more
europepmc   +1 more source

Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. [PDF]

Exp Ther Med, 2018
Su F, Miao J, Liu X, Wei X, Yu X.
europepmc   +1 more source

Atypical Miyoshi distal myopathy: A case report. [PDF]

Exp Ther Med, 2016
Wang M, Guo Y, Fu Y, Jia R, Chen G.
europepmc   +1 more source

A Heterologous Cell Model for Studying the Role of T-Cell Intracellular Antigen 1 in Welander Distal Myopathy. [PDF]

Mol Cell Biol, 2019
Carrascoso I, Sánchez-Jiménez C, Silion E, Alcalde J, Izquierdo JM.   +4 more
europepmc   +1 more source

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. [PDF]

J Clin Neuromuscul Dis, 2017
Gass J, Blackburn P, Jackson J, Harris K, Selcen D, Dimberg E, Atwal P.   +6 more
europepmc   +1 more source

Anaesthetic management of a case of distal myopathy

Indian Journal of Anaesthesia, 2014
Neelam Agrawal, Ankur Sharma, Ravindra Batra   +2 more
doaj   +1 more source