Detalhe da pesquisa
1.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
2.
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.
Genet Med
; 18(6): 600-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492578
3.
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
Neurogenetics
; 16(1): 33-42, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231362
4.
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain
; 134(Pt 9): 2664-76, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840889
5.
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Neurogenetics
; 11(3): 357-66, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232219
6.
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
J Neurol
; 258(8): 1413-21, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21336783