Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
3.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
4.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
5.
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Blood
; 137(26): 3660-3669, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763700
6.
Clinical and radiological description of 120 pediatric stroke-like episodes.
Eur J Neurol
; 30(7): 2051-2061, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046408
7.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675510
8.
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
J Med Genet
; 59(5): 505-510, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811134
9.
Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both?
J Med Genet
; 59(2): 204-208, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33199448
10.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet
; 141(1): 65-80, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748075
11.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
12.
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Epilepsy Behav
; 126: 108471, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915430
13.
A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
J Neurophysiol
; 126(2): 532-539, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232791
14.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429571
15.
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Genet Med
; 23(5): 968-971, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500571
16.
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.
Genet Med
; 23(4): 720-731, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33303968
17.
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Mol Genet Metab
; 134(3): 267-273, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34620555
18.
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Mol Genet Metab
; 133(2): 222-229, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972171
19.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Haematologica
; 106(4): 1220-1225, 2021 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33327715
20.
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Dev Med Child Neurol
; 63(6): 705-711, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33511646