Detalhe da pesquisa
1.
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
J Med Genet
; 2024 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38871447
2.
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
J Peripher Nerv Syst
; 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874107
3.
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
em Inglês
| MEDLINE | ID: mdl-37897416
4.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Pediatr Neurol
; 154: 4-8, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428336
5.
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Life (Basel)
; 12(3)2022 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35330153