Detalhe da pesquisa
1.
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
em Inglês
| MEDLINE | ID: mdl-36055214
2.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478578
3.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
4.
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
em Inglês
| MEDLINE | ID: mdl-37924258
5.
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
em Inglês
| MEDLINE | ID: mdl-31866046
6.
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
7.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Ann Neurol
; 91(1): 117-130, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716721
8.
Prion-like α-synuclein pathology in the brain of infants with Krabbe disease.
Brain
; 145(4): 1257-1263, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999780
9.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
10.
Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.
Neuropathol Appl Neurobiol
; 48(6): e12833, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790454
11.
Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.
J Inherit Metab Dis
; 45(2): 264-277, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34873722
12.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Hum Mol Genet
; 28(2): 258-268, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285085
13.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245030
14.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478781
15.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
16.
The Effect of tRNA[Ser]Sec Isopentenylation on Selenoprotein Expression.
Int J Mol Sci
; 22(21)2021 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768885
17.
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.
Hum Mol Genet
; 27(23): 4135-4144, 2018 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30452684
18.
The genetic basis of isolated mitochondrial complex II deficiency.
Mol Genet Metab
; 131(1-2): 53-65, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33162331
19.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ann Neurol
; 86(2): 310-315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187502
20.
Recent advances in understanding the molecular genetic basis of mitochondrial disease.
J Inherit Metab Dis
; 43(1): 36-50, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31021000