Detalhe da pesquisa
1.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
J Peripher Nerv Syst
; 28(4): 620-628, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37897416
2.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Pediatr Neurol
; 154: 4-8, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38428336
3.
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Front Neurol
; 15: 1284459, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38356886
4.
Case report: Episodic ataxia without ataxia?
Front Neurol
; 14: 1224241, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37965175