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.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
Neurol Sci
; 2023 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38159148
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.
Eur J Neurol
; 29(6): 1859-1862, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212100
19.
Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam's razor or Hickam's dictum: a case report.
BMC Neurol
; 22(1): 381, 2022 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36209056
20.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346