Detalhe da pesquisa
1.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Clin Genet
; 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38747280
2.
Static Balance in Hereditary Spastic Paraplegias: a Cross-sectional Study.
Cerebellum
; 23(1): 162-171, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36692709
3.
Postural adjustments and perceptual responses of Nordic running: concurrent effects of poles and irregular terrain.
Eur J Appl Physiol
; 124(6): 1733-1745, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38231230
4.
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Clin Genet
; 103(5): 580-584, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36537231
5.
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil.
Genet Mol Biol
; 46(3 Suppl 1): e20230126, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38091267
6.
Progression of Functional Gait in Hereditary Spastic Paraplegias.
Cerebellum
; 21(3): 350-357, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34244902
7.
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Neurol Sci
; 43(7): 4473-4481, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35175440
8.
Clinical trials for genetic diseases in Latin America.
Am J Med Genet C Semin Med Genet
; 187(3): 381-387, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34480410
9.
Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Clin Genet
; 98(2): 185-190, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32506583
10.
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Mol Genet Metab
; 126(1): 6-13, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30594472
11.
State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change.
Genet Mol Biol
; 42(1 suppl 1): 238-251, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31188927
12.
Planning Future Clinical Trials for Machado-Joseph Disease.
Adv Exp Med Biol
; 1049: 321-348, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29427112
13.
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.
Neurogenetics
; 17(2): 107-13, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26780339
14.
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.
Cerebellum
; 15(4): 518-25, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26395908
15.
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
Cerebellum
; 19(3): 465-468, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32146693
16.
A randomized, phase 2 clinical trial of lithium carbonate in Machado-Joseph disease.
Mov Disord
; 29(4): 568-73, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24399647
17.
Empowerment of genetic information by women at-risk of being carriers of Duchenne and Becker muscular dystrophies.
J Community Genet
; 15(2): 163-175, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38165635
18.
Co-Occurrence of Myotonic Dystrophy Type 1 and Limb-Girdle Muscular Dystrophy Type 2B: A Case Report.
Mol Syndromol
; 15(1): 58-62, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38357254
19.
Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy.
Brain Commun
; 6(2): fcae062, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38487549
20.
Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Arq Neuropsiquiatr
; 82(1): 1-18, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38316428