Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38423010
2.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36055214
3.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 2024 Mar 13.
Artigo
Inglês
| MEDLINE | ID: mdl-38478578
4.
Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues.
Hum Mol Genet
; 31(7): 1171-1182, 2022 03 31.
Artigo
Inglês
| MEDLINE | ID: mdl-34788810
5.
Multi-omics in MECP2 duplication syndrome patients and carriers.
Eur J Neurosci
; 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38746988
6.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101120, 2024 Mar 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38469793
7.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924258
8.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38244286
9.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36333996
10.
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Hum Genomics
; 17(1): 85, 2023 09 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37710353
11.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Brain
; 146(7): 2730-2738, 2023 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36860166
12.
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.
Neuropediatrics
; 55(2): 140-145, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37846133
13.
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Mol Cell
; 63(4): 621-632, 2016 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-27499296
14.
Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.
Int J Mol Sci
; 25(9)2024 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38731822
15.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet
; 106(1): 102-111, 2020 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31883641
16.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Am J Hum Genet
; 106(1): 92-101, 2020 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31866046
17.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Genet Med
; 25(12): 100971, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37675773
18.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36305855
19.
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
Mol Genet Metab
; 140(3): 107675, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37572574
20.
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Ann Neurol
; 91(4): 466-482, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35094435