Search details
1.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Article
in English
| MEDLINE | ID: mdl-33128823
2.
VMA21 deficiency: a case of myocyte indigestion.
Cell
; 137(2): 213-5, 2009 Apr 17.
Article
in English
| MEDLINE | ID: mdl-19379689
3.
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
Mol Genet Metab
; 136(2): 125-131, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35606253
4.
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
J Inherit Metab Dis
; 44(3): 534-543, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33141444
5.
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Am J Hum Genet
; 101(4): 525-538, 2017 Oct 05.
Article
in English
| MEDLINE | ID: mdl-28942965
6.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Hum Mol Genet
; 26(21): 4257-4266, 2017 11 01.
Article
in English
| MEDLINE | ID: mdl-28973171
7.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29602790
8.
A Brief History of Mitochondrial Pathologies.
Int J Mol Sci
; 20(22)2019 Nov 12.
Article
in English
| MEDLINE | ID: mdl-31718067
9.
Human mitochondrial DNA: roles of inherited and somatic mutations.
Nat Rev Genet
; 13(12): 878-90, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23154810
10.
A novel mouse model that recapitulates adult-onset glycogenosis type 4.
Hum Mol Genet
; 24(23): 6801-10, 2015 Dec 01.
Article
in English
| MEDLINE | ID: mdl-26385640
11.
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Nature
; 478(7367): 127-31, 2011 Oct 05.
Article
in English
| MEDLINE | ID: mdl-21979053
12.
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Am J Hum Genet
; 93(5): 906-14, 2013 Nov 07.
Article
in English
| MEDLINE | ID: mdl-24119684
13.
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.
Mol Genet Metab
; 118(1): 28-34, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26992325
14.
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
Hum Reprod
; 31(5): 1058-65, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26936885
15.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.
Proc Natl Acad Sci U S A
; 110(33): 13552-7, 2013 Aug 13.
Article
in English
| MEDLINE | ID: mdl-23898205
16.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Am J Hum Genet
; 91(4): 729-36, 2012 Oct 05.
Article
in English
| MEDLINE | ID: mdl-23022099
17.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genet Med
; 17(9): 689-701, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25503498
18.
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Ann Neurol
; 76(6): 891-8, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25272951
19.
A myopathy with unusual features caused by PNPLA2 gene mutations.
Muscle Nerve
; 51(4): 609-13, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25287355
20.
Metabolic Myoglobinuria.
Curr Neurol Neurosci Rep
; 15(10): 69, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26319173