Detalhe da pesquisa
1.
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
2.
Variants in ATP5F1B are associated with dominantly inherited dystonia.
Brain;
146(7): 2730-2738, 2023 07 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36860166
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.
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
5.
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
6.
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
7.
GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.
Bioinformatics;
34(17): 3038-3040, 2018 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29668842
8.
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
9.
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
10.
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
J Med Genet;
54(12): 815-824, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29079705
11.
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
12.
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
13.
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
14.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Brain;
139(Pt 3): 782-94, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26912632
15.
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Hum Mutat;
37(9): 898-903, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27328748
16.
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Am J Med Genet A;
170(11): 3004-3007, 2016 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27549011
17.
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number".
Hum Mutat;
41(11): 2014-2015, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33113594
18.
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Hum Mutat;
36(5): 489-95, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25726928
19.
First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study.
Psychiatry Clin Neurosci;
69(2): 77-83, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25211641
20.
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Am J Med Genet B Neuropsychiatr Genet;
168(7): 586-94, 2015 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26129893