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
em Inglês
| MEDLINE | ID: mdl-37897416
2.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Muscle Nerve
; 65(1): 96-104, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34687219
3.
Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma.
Genes Chromosomes Cancer
; 57(8): 387-400, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29689622
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.
Case report: Episodic ataxia without ataxia?
Front Neurol
; 14: 1224241, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37965175
6.
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Acta Myol
; 42(4): 113-117, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38406380
7.
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
8.
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma.
Cancers (Basel)
; 11(11)2019 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31671564
9.
A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
Parkinsonism Relat Disord
; 102: 54-56, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947939