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.
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
Cerebellum
; 22(6): 1313-1319, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447112
3.
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clin Genet
; 102(1): 56-60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246835
4.
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
5.
Expanded phenotype of AARS1-related white matter disease.
Genet Med
; 23(12): 2352-2359, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34446925
6.
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Neurobiol Dis
; 141: 104880, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32344152
7.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Hum Mol Genet
; 27(15): 2739-2754, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767723
8.
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
9.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204
10.
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
Hum Mutat
; 43(1): 99-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888984
11.
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
12.
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Biochim Biophys Acta Mol Basis Dis
; 1863(4): 961-967, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132884
13.
Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.
Pediatr Allergy Immunol
; 33(5): e13782, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616898
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.
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Neurogenetics
; 17(1): 65-70, 2016 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26556812
16.
Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
Hum Mol Genet
; 23(6): 1399-412, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24154540
17.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Hum Mol Genet
; 27(20): 3650, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113620
18.
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Mol Genet Metab
; 111(3): 353-359, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24485043
19.
Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis.
Int J Mol Sci
; 15(4): 5789-806, 2014 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24714088
20.
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Ann Clin Transl Neurol
; 11(3): 819-825, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38327089