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
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
J Med Genet
; 61(1): 93-101, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734847
3.
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion.
Nucleic Acids Res
; 50(15): 8749-8766, 2022 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947649
4.
The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica).
Mol Biol Evol
; 39(6)2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617136
5.
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Hum Mol Genet
; 29(11): 1864-1881, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984424
6.
Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys.
Mol Med
; 28(1): 90, 2022 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35922766
7.
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.
Mol Genet Metab
; 135(1): 72-81, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916127
8.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Mov Disord
; 37(9): 1938-1943, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792653
9.
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.
Int J Mol Sci
; 23(15)2022 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35955927
10.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
J Cell Mol Med
; 25(5): 2459-2470, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33476483
11.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
12.
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
PLoS Genet
; 14(2): e1007210, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444077
13.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Brain
; 146(9): e67-e70, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913248
14.
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm.
J Neuroophthalmol
; 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38381526
15.
Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.
Biochim Biophys Acta Bioenerg
; 1859(3): 182-190, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269267
16.
Haplogroup J mitogenomes are the most sensitive to the pesticide rotenone: Relevance for human diseases.
Neurobiol Dis
; 114: 129-139, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29486301
17.
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort".
Mov Disord
; 38(4): 709-710, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061879
18.
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Ann Neurol
; 80(3): 448-55, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27421916
19.
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts.
Mov Disord
; 37(11): 2319-2320, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373941
20.
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
Ann Neurol
; 78(1): 21-38, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820230