Detalhe da pesquisa
1.
Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
J Hum Genet
; 60(2): 103-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25500726
2.
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.
Neurogenetics
; 15(3): 171-82, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24816431
3.
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
BMC Med Genet
; 14: 125, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24314034
4.
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.
J Clin Neurol
; 11(2): 183-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749816
5.
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.
Neuromuscul Disord
; 23(8): 656-63, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23796487
6.
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Neurology
; 81(2): 165-73, 2013 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-23749797
7.
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Orphanet J Rare Dis
; 8: 104, 2013 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-23844677
8.
Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.
J Genet
; 93(1): 173-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24840835