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.
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.
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.
Eur J Neurol
; : e16344, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757769
4.
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
5.
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
6.
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.
N Engl J Med
; 382(18): 1687-1695, 2020 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32286748
7.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
8.
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
9.
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
10.
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
11.
Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder.
Mov Disord
; 37(1): 205-210, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617633
12.
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
13.
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
14.
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.
J Neuroophthalmol
; 41(3): 309-315, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415265
15.
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
16.
Retinal imaging in Alzheimer's and neurodegenerative diseases.
Alzheimers Dement
; 17(1): 103-111, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090722
17.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Neurogenetics
; 21(2): 87-96, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31900734
18.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488467
19.
Optic neuropathies: the tip of the neurodegeneration iceberg.
Hum Mol Genet
; 26(R2): R139-R150, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977448
20.
Functional Changes of Retinal Ganglion Cells and Visual Pathways in Patients with Chronic Leber's Hereditary Optic Neuropathy during One Year of Follow-up.
Ophthalmology
; 126(7): 1033-1044, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30822445