Detalhe da pesquisa
1.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol
; 8(2): 471-476, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405357
2.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Mol Genet Genomic Med
; 7(9): e875, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338985
3.
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Mol Genet Genomic Med
; 7(9): e839, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393079
4.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Arch Neurol
; 66(12): 1511-6, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20008656