Detalhe da pesquisa
1.
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.
Neuropediatrics
; 55(2): 135-139, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935417
2.
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
3.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum
; 22(6): 1313-1319, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447112
4.
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
5.
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Neuropediatrics
; 54(3): 161-166, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868263
6.
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
7.
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
Neurol Sci
; 43(3): 2081-2084, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35031921
8.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat
; 42(6): 699-710, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715266
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.
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
11.
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Hum Mol Genet
; 27(3): 499-504, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29211846
12.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Hum Mutat
; 40(10): 1731-1748, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045291
13.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Acta Neurol Scand
; 140(3): 184-193, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31102535
14.
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
15.
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
J Hum Genet
; 63(5): 563-568, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29531337
16.
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
Metab Brain Dis
; 33(3): 805-812, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29359243
17.
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Biochim Biophys Acta
; 1857(8): 1326-1335, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26968897
18.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Am J Hum Genet
; 95(3): 315-25, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25175347
19.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet
; 95(6): 708-20, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434004
20.
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
Brain
; 144(9): e74, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34165507