Detalhe da pesquisa
1.
Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
Hum Mol Genet
; 26(17): 3313-3326, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28595321
2.
Plasma neurofilament heavy chain is not a useful biomarker in Charcot-Marie-Tooth disease.
Muscle Nerve
; 53(6): 972-5, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27015106
3.
The distal hereditary motor neuropathies.
J Neurol Neurosurg Psychiatry
; 83(1): 6-14, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22028385
4.
A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
J Peripher Nerv Syst
; 17(2): 201-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22734906
5.
Mutant glycyl-tRNA synthetase (Gars) ameliorates SOD1(G93A) motor neuron degeneration phenotype but has little affect on Loa dynein heavy chain mutant mice.
PLoS One
; 4(7): e6218, 2009 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19593442
6.
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Dis Model Mech
; 2(7-8): 359-73, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19470612