Detalhe da pesquisa
1.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med
; 26(5): 101087, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288683
2.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37769650
3.
Changes in Gene Expression After Exposing Arabidopsis thaliana Plants to Nanosecond High Amplitude Electromagnetic Field Pulses.
Bioelectromagnetics
; 45(1): 4-15, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408527
4.
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
Hum Mol Genet
; 30(1): 21-29, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33437983
5.
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
6.
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
Hum Mol Genet
; 29(8): 1319-1329, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202296
7.
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Clin Genet
; 102(5): 438-443, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861300
8.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
9.
Metabolomic Sexual Dimorphism of the Mouse Brain is Predominantly Abolished by Gonadectomy with a Higher Impact on Females.
J Proteome Res
; 20(5): 2772-2779, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851846
10.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
11.
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Hum Mutat
; 41(2): 397-402, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680380
12.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
13.
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.
Am J Med Genet A
; 182(3): 565-569, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31793730
14.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319008
15.
mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination.
Genes Dev
; 26(4): 384-94, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22345519
16.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379041
17.
Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.
J Proteome Res
; 18(3): 1307-1315, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30701980
18.
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts.
J Proteome Res
; 18(7): 2779-2790, 2019 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199663
19.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 695-703, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545681
20.
CLUH couples mitochondrial distribution to the energetic and metabolic status.
J Cell Sci
; 130(11): 1940-1951, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28424233