Detalhe da pesquisa
1.
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Am J Hum Genet
; 106(1): 102-111, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883641
2.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Genet Med
; 25(7): 100838, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057673
3.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
4.
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Int J Mol Sci
; 24(9)2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175952
5.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Hum Mutat
; 42(2): 135-141, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169484
6.
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Hum Genomics
; 14(1): 28, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32907636
7.
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.
J Pediatr
; 196: 309-313.e3, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395179
8.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Genet Med
; 19(6): 667-675, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574513
9.
The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.
Hum Mol Genet
; 23(4): 949-67, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24092330
10.
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Hum Mutat
; 36(1): 34-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339201
11.
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
Am J Hum Genet
; 88(4): 488-93, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21457908
12.
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Brain
; 136(Pt 5): 1544-54, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23599390
13.
C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.
Nucleic Acids Res
; 40(9): 4040-51, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22238375
14.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Hum Mutat
; 34(12): 1721-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123792
15.
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Biochim Biophys Acta
; 1822(2): 168-75, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036843
16.
Mitochondrial ATP synthase: architecture, function and pathology.
J Inherit Metab Dis
; 35(2): 211-25, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21874297
17.
Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
J Inherit Metab Dis
; 35(6): 1059-69, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403016
18.
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Hum Mol Genet
; 18(18): 3365-74, 2009 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19525295
19.
Biochemical diagnosis of mitochondrial disorders.
J Inherit Metab Dis
; 34(2): 283-92, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20440652
20.
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.
JIMD Rep
; 60(1): 15-22, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258137