Search details
1.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Am J Hum Genet
; 106(1): 92-101, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31866046
2.
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Mol Genet Metab
; 140(3): 107657, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37523899
3.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Hum Mol Genet
; 28(22): 3766-3776, 2019 11 15.
Article
in English
| MEDLINE | ID: mdl-31435670
4.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Hum Mol Genet
; 28(2): 258-268, 2019 01 15.
Article
in English
| MEDLINE | ID: mdl-30285085
5.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep
; 48(3): 2093-2104, 2021 Mar.
Article
in English
| MEDLINE | ID: mdl-33742325
6.
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Clin Genet
; 97(2): 276-286, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31600844
7.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Neuropediatrics
; 51(3): 178-184, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31779033
8.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Am J Hum Genet
; 98(5): 993-1000, 2016 May 05.
Article
in English
| MEDLINE | ID: mdl-27132592
9.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Am J Hum Genet
; 99(4): 860-876, 2016 10 06.
Article
in English
| MEDLINE | ID: mdl-27693233
10.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Am J Hum Genet
; 99(1): 217-27, 2016 Jul 07.
Article
in English
| MEDLINE | ID: mdl-27374774
11.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Ann Neurol
; 83(1): 115-130, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29283441
12.
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
Hum Mutat
; 39(1): 69-79, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29044765
13.
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Hum Mutat
; 39(4): 563-578, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29314548
14.
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
BMC Med Genet
; 19(1): 196, 2018 11 12.
Article
in English
| MEDLINE | ID: mdl-30419932
15.
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Neurogenetics
; 18(4): 227-235, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29075935
16.
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
J Med Genet
; 53(9): 634-41, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27091925
17.
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.
PLoS Genet
; 10(6): e1004424, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24901367
18.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Article
in English
| MEDLINE | ID: mdl-23993193
19.
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Brain
; 138(Pt 12): 3503-19, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26510951
20.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Biochim Biophys Acta
; 1842(1): 56-64, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24161539