Detalhe da pesquisa
1.
Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.
Hum Mutat
; 42(4): 378-384, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33502047
2.
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
em Inglês
| MEDLINE | ID: mdl-32827528
3.
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
em Inglês
| MEDLINE | ID: mdl-28430993
4.
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Am J Hum Genet
; 97(5): 761-8, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522469
5.
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.
Hum Mol Genet
; 24(23): 6580-7, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26374844
6.
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
em Inglês
| MEDLINE | ID: mdl-26084283
7.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
BMC Genomics
; 15: 1090, 2014 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25495354
8.
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Biochim Biophys Acta Mol Basis Dis
; 1869(7): 166786, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37302426
9.
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
Neurol Genet
; 9(6): e200100, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38035175
10.
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Am J Med Genet A
; 155A(6): 1298-313, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538838
11.
Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).
Front Neurol
; 12: 652590, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33841319
12.
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.
Neurol Genet
; 7(2): e566, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732874
13.
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Genome Med
; 13(1): 40, 2021 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726816
14.
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
Biochim Biophys Acta
; 1787(5): 484-90, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19103152
15.
Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.
Hum Mutat
; 30(7): E728-36, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19384974
16.
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.
Stem Cell Reports
; 12(4): 696-711, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827875
17.
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.
JIMD Rep
; 34: 19-26, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27469133
18.
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.
Orphanet J Rare Dis
; 12(1): 73, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28427446
19.
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.
Mov Disord
; 23(8): 1191-2, 2008 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412280
20.
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
JIMD Rep
; 4: 67-73, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430898