Detalhe da pesquisa
1.
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.
J Biol Chem;
299(5): 104656, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36990216
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet;
108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33596411
3.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet;
108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33513338
4.
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.
Clin Genet;
2024 Jun 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38857973
5.
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Clin Genet;
2024 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38747280
6.
Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
BMC Neurol;
24(1): 169, 2024 May 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38783211
7.
Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
BMC Neurol;
24(1): 130, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38632524
8.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain;
146(6): 2285-2297, 2023 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36477332
9.
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
Neurol Sci;
45(6): 2705-2710, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38159148
10.
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Genet Mol Biol;
47(1): e20220335, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38593426
11.
New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment.
Neurol Sci;
44(10): 3691-3696, 2023 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37140833
12.
Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?
Neurol Sci;
44(1): 319-327, 2023 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36094773
13.
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
J Med Genet;
59(3): 305-312, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33685999
14.
DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
J Med Genet;
59(3): 294-304, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33495304
15.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet;
104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30612693
16.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet;
105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31256877
17.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet;
104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31079897
18.
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Ann Neurol;
90(2): 239-252, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34048612
19.
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Mov Disord;
37(6): 1309-1316, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35426160
20.
Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis.
Mol Psychiatry;
26(7): 3558-3571, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32839513