Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36074901
2.
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
J Med Genet
; 60(1): 65-73, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34872991
3.
Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.
BMC Ophthalmol
; 23(1): 394, 2023 Sep 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37752499
4.
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study.
J Inherit Metab Dis
; 45(2): 248-263, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34873726
5.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33502047
6.
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.
J Pediatr
; 228: 240-251.e2, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32827528
7.
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Am J Hum Genet
; 101(6): 965-976, 2017 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29220678
8.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
J Inherit Metab Dis
; 43(4): 726-736, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32391929
9.
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Hum Mol Genet
; 26(13): 2515-2525, 2017 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28430993
10.
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
J Med Genet
; 55(1): 21-27, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29101127
11.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26522469
12.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29205472
13.
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
Epilepsia
; 59(8): 1595-1602, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29920680
14.
Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants.
Acta Paediatr
; 107(11): 1995-2003, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29683519
15.
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
Hum Mol Genet
; 24(23): 6580-7, 2015 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26374844
16.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26475597
17.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet
; 52(11): 779-83, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26084283
18.
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Neuropediatrics
; 46(2): 98-103, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25642805
19.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
Inglês
| MEDLINE | ID: mdl-25495354
20.
Status epilepticus in POLG disease: a large multinational study.
J Neurol
; 2024 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38822839