Detalhe da pesquisa
1.
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
J Med Genet
; 61(4): 325-331, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890998
2.
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
Neurodegener Dis
; 18(2-3): 74-83, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29587262
3.
A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
Muscle Nerve
; 42(6): 922-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21104867