Detalhe da pesquisa
1.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Ann Neurol
; 86(1): 55-67, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070812
2.
Yield of next-generation neuropathy gene panels in axonal neuropathies.
J Peripher Nerv Syst
; 24(4): 324-329, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701603
3.
POLG mutations presenting as Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 24(2): 213-218, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30843307
4.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
; 95(24): e3163-e3179, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144514