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.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
4.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
5.
Phenotyping mitochondrial DNA-related diseases in childhood: A cohort study of 150 patients.
Eur J Neurol
; 30(7): 2079-2091, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038312
6.
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Eur J Neurol
; 30(2): 511-526, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260368
7.
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
Int J Mol Sci
; 24(16)2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628761
8.
European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.
Eur J Neurol
; 29(6): 1571-1586, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35318776
9.
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
10.
The Roles of Coenzyme Q in Disease: Direct and Indirect Involvement in Cellular Functions.
Int J Mol Sci
; 23(1)2021 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008564
11.
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Hum Mutat
; 41(10): 1745-1750, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32652806
12.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Neurogenetics
; 21(2): 87-96, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31900734
13.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
J Inherit Metab Dis
; 43(4): 800-818, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32030781
14.
Awareness of rare and genetic neurological diseases among italian neurologist. A national survey.
Neurol Sci
; 41(6): 1567-1570, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31989346
15.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
; 40(5): 601-618, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801875
16.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Am J Hum Genet
; 99(4): 831-845, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27640307
17.
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Am J Med Genet A
; 179(5): 827-831, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773800
18.
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Hum Mol Genet
; 25(5): 1031-41, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740552
19.
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Am J Hum Genet
; 97(1): 186-93, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26094573
20.
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Am J Hum Genet
; 96(2): 309-17, 2015 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25658047