Detalhe da pesquisa
1.
Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations.
Mov Disord
; 36(2): 283-297, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33022077
2.
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
Clin Genet
; 96(4): 341-353, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268554
3.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Ann Neurol
; 79(2): 244-56, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26528954
4.
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
J Pediatr
; 204: 305-313.e14, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30579468
5.
Nonmotor and extracerebellar features in Machado-Joseph disease: a review.
Mov Disord
; 28(9): 1200-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23775899
6.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
EMBO Mol Med
; 15(5): e16775, 2023 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37013609
7.
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
J Clin Invest
; 132(18)2022 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35900868
8.
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Orphanet J Rare Dis
; 17(1): 84, 2022 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35209917
9.
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.
Mol Syndromol
; 11(1): 24-29, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256298
10.
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Ann Clin Transl Neurol
; 6(7): 1225-1238, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353849
11.
Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients.
Mov Disord Clin Pract
; 2(3): 260-266, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30363545