Results 151 to 160 of about 28,319 (230)

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

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan [PDF]

, 2017
Artur A. Isaev, Gimat D. Dalgatov, Ivan A. Yakovlev, Mikhail O. Mavlikeev, Olga N. Chernova, Patimat G. Akhmedova, Raisat M. Magomedova, Roman V. Deev, Sergei N. Bardakov, Valerii P. Fedotov, Zoya R. Umakhanova   +10 more
core   +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

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +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

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

Distal myopathy [PDF]

, 2020
openaire   +1 more source

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations [PDF]

, 2018
Bucelli, Robert C, et al,, Lee, Youjin, Weihl, Conrad C   +3 more
core   +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