Detalhe da pesquisa
1.
Neurodevelopmental disorder associated with gene ARF3: A case report.
Am J Med Genet A
; : e63658, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712921
2.
BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.
Am J Med Genet A
; 188(6): 1875-1880, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243762
3.
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
J Med Genet
; 58(3): 155-167, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439808
4.
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Am J Med Genet C Semin Med Genet
; 187(3): 349-356, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33960103
5.
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms.
Genet Mol Biol
; 44(4): e20210149, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34807224
6.
Enzyme Replacement Therapy Decreases Left Ventricular Mass Index in Patients with Hunter Syndrome?
Pediatr Cardiol
; 41(2): 361-365, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834462
7.
Clinical variability of children with anti-N-methyl-D-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature.
Neurol Sci
; 40(2): 351-356, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460460
8.
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Genet Mol Biol
; 37(2): 315-29, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25071396
9.
Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.
Pediatr Neurol
; 154: 9-14, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430891
10.
Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies.
Front Public Health
; 12: 1305878, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38327584
11.
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Orphanet J Rare Dis
; 18(1): 160, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349768
12.
Predictive factors of genetic diagnosis and real-life impact of next-generation sequencing for children with epilepsy.
Epileptic Disord
; 25(5): 724-730, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37518897
13.
Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.
Arq Neuropsiquiatr
; 81(9): 844-856, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37793406
14.
Brazilian autoimmune encephalitis network (BrAIN): antibody profile and clinical characteristics from a multicenter study.
Front Immunol
; 14: 1256480, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37954587
15.
Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.
Front Neurol
; 13: 968297, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36468061
16.
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
J Clin Invest
; 132(19)2022 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917186
17.
GABAA receptor encephalitis associated with human parvovirus B19 virus infection: Case report.
Medicine (Baltimore)
; 100(23): e26324, 2021 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115048
18.
Functional results after carpal tunnel release in mucopolysaccharidosis.
Orphanet J Rare Dis
; 16(1): 382, 2021 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34503540
19.
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
JIMD Rep
; 60(1): 23-31, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258138
20.
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy.
J Inherit Metab Dis
; 33 Suppl 3: S257-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20596894