Detalhe da pesquisa
1.
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Brain
; 146(9): 3826-3835, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36947133
2.
Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A.
Muscle Nerve
; 57(5): E126-E128, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29266326
3.
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
Hum Mol Genet
; 19(6): 1033-47, 2010 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20028791
4.
Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities.
Neurotherapeutics
; 18(4): 2269-2285, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606075