Results 151 to 160 of about 561,973 (252)

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

Neurology, 2016
R. Ghaoui, J. Palmio, J. Brewer, M. Lek, M. Needham, A. Evilä, P. Hackman, P. Jonson, S. Penttilä, A. Vihola, S. Huovinen, M. Lindfors, R. Davis, L. Waddell, S. Kaur, C. Yiannikas, K. North, N. Clarke, D. MacArthur, C. Sue, B. Udd   +20 more
semanticscholar   +1 more source

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. [PDF]

, 2017
Blake, JC, Bugiardini, E, Hanna, MG, Holton, JL, Houlden, H, Lynch, DS, Matthews, E, Pittman, AM, Reilly, MM, Rossor, AM, Swash, M   +10 more
core   +2 more sources

Decoding the Molecular Grammar of TIA1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy Under Oxidative Stress. [PDF]

Cells
Alcalde-Rey I, Velasco BR, Alcalde J, Izquierdo JM.   +3 more
europepmc   +1 more source

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. [PDF]

Acta Myol, 2020
Negrão L, Machado R, Lourenço M, Fernandez-Marmiesse A, Rebelo O.   +4 more
europepmc   +1 more source

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families

European Journal of Neurology, 2018
P. Jonson, J. Palmio, M. Johari, S. Penttilä, A. Evilä, Isabelle Nelson, G. Bonne, N. Wiart, Vincent Meyer, A. Boland, J. Deleuze, Cécile Masson, Tanya Stojkovic, Françoise Chapon, Norma B. Romero, G. Solé, X. Ferrer, Ana Ferreiro, P. Hackman, Isabelle Richard, B. Udd, B. Udd   +21 more
semanticscholar   +1 more source

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy. [PDF]

Genes (Basel)
Tamanna N, Pi BK, Lee AJ, Kanwal S, Choi BO, Chung KW.   +5 more
europepmc   +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

Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress. [PDF]

Genes Dis
Ramos Velasco B, Alcalde J, Izquierdo JM.   +2 more
europepmc   +1 more source

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T. [PDF]

Cureus
Finsterer J, Barwari A.
europepmc   +1 more source

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