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1.
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
Mol Cell
; 69(1): 9-23.e6, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29290614
2.
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
3.
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Hum Mol Genet
; 27(10): 1743-1753, 2018 05 15.
Article
in English
| MEDLINE | ID: mdl-29518248
4.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31462754
5.
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
6.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29602790
7.
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
Am J Hum Genet
; 95(6): 708-20, 2014 Dec 04.
Article
in English
| MEDLINE | ID: mdl-25434004
8.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
J Clin Invest
; 132(13)2022 07 01.
Article
in English
| MEDLINE | ID: mdl-35617047
9.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nat Commun
; 12(1): 1135, 2021 02 18.
Article
in English
| MEDLINE | ID: mdl-33602924
10.
Characterization of the BspA and Pmp protein family of trichomonads.
Parasit Vectors
; 12(1): 406, 2019 Aug 19.
Article
in English
| MEDLINE | ID: mdl-31426868
11.
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.
JIMD Rep
; 33: 61-68, 2017.
Article
in English
| MEDLINE | ID: mdl-27571996
12.
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.
Neurol Genet
; 3(5): e187, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28955726
13.
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
JAMA Neurol
; 74(6): 686-694, 2017 06 01.
Article
in English
| MEDLINE | ID: mdl-28395030
14.
Adult-onset Mendelian PEO Associated with Mitochondrial Disease.
J Neuromuscul Dis
; 1(2): 119-133, 2014.
Article
in English
| MEDLINE | ID: mdl-27858775
15.
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.
Neurol Genet
; 3(6): e202, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29264394
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