Detalhe da pesquisa
1.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
; 146(6): 2285-2297, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36477332
2.
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study.
Mov Disord
; 37(6): 1294-1298, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35384065
3.
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Int J Mol Sci
; 23(19)2022 Oct 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36233295
4.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30010796
5.
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Am J Med Genet A
; 173(9): 2451-2455, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28631899
6.
Muscle regeneration in spastic muscles of children with cerebral palsy.
Dev Med Child Neurol
; 63(10): 1137, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34091893
7.
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
8.
Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group.
Arq Neuropsiquiatr
; 81(3): 284-295, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37059438
9.
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
J Neuromuscul Dis
; 10(5): 813-823, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37393513
10.
Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
Arq Neuropsiquiatr
; 81(1): 81-94, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36918011
11.
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
Muscle Nerve
; 45(2): 279-83, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22246887
12.
Endoscopic treatment of interhemispheric arachnoid cysts.
Pediatr Neurosurg
; 48(3): 157-62, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23406792
13.
Scientific rationale for a higher dose of nusinersen.
Ann Clin Transl Neurol
; 9(6): 819-829, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35567345
14.
[Poor school performance: an updated review]. / Mau desempenho escolar: uma visão atual.
Rev Assoc Med Bras (1992)
; 57(1): 78-87, 2011.
Artigo
Português
| MEDLINE | ID: mdl-21390464
15.
Sarcoglycanopathies: an update.
Neuromuscul Disord
; 31(10): 1021-1027, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34404573
16.
Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
J Mol Neurosci
; 71(11): 2275-2280, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-33464536
17.
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Eur J Paediatr Neurol
; 34: 7-13, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34271245
18.
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
Neuromuscul Disord
; 31(11): 1199-1206, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34742623
19.
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Brain Commun
; 3(3): fcab075, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-34240052
20.
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Acta Myol
; 39(4): 274-282, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33458582