Detalhe da pesquisa
1.
Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.
Hum Mol Genet
; 33(5): 435-447, 2024 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37975900
2.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
3.
OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.
Proc Natl Acad Sci U S A
; 120(12): e2207471120, 2023 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927155
4.
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Brain
; 147(1): 281-296, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721175
5.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508595
6.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
7.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
8.
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
Acta Neuropathol
; 147(1): 19, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38240888
9.
Correlation Between the SARA and A-T NEST Clinical Severity Scores in Adults with Ataxia-Telangiectasia.
Cerebellum
; 23(2): 455-458, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37036622
10.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
11.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
12.
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Proc Natl Acad Sci U S A
; 118(13)2021 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753480
13.
Mitochondrial Diseases: A Diagnostic Revolution.
Trends Genet
; 36(9): 702-717, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32674947
14.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
15.
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
J Pathol
; 256(1): 93-107, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599609
16.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Brain
; 145(11): 3999-4015, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148379
17.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791078
18.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Brain
; 145(7): 2301-2312, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373813
19.
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.
Nucleic Acids Res
; 49(17): 9686-9695, 2021 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34428295
20.
Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.
Int J Mol Sci
; 24(10)2023 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239850