Search details
1.
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
Brain
; 145(10): 3415-3430, 2022 10 21.
Article
in English
| MEDLINE | ID: mdl-35656794
2.
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains.
Acta Neuropathol
; 141(1): 39-65, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33079262
3.
Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases.
Hum Mutat
; 41(8): 1394-1406, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32419253
4.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Am J Hum Genet
; 100(1): 151-159, 2017 Jan 05.
Article
in English
| MEDLINE | ID: mdl-27989324
5.
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Hum Mol Genet
; 26(9): 1599-1611, 2017 05 01.
Article
in English
| MEDLINE | ID: mdl-28335035
6.
NDUFS6 related Leigh syndrome: a case report and review of the literature.
J Hum Genet
; 64(7): 637-645, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30948790
7.
Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.
Acta Neuropathol
; 138(1): 123-145, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30874923
8.
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
Neurobiol Dis
; 119: 159-171, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30092269
9.
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
BMC Med Genet
; 19(1): 57, 2018 04 07.
Article
in English
| MEDLINE | ID: mdl-29625556
10.
Targeting eIF5A Hypusination Prevents Anoxic Cell Death through Mitochondrial Silencing and Improves Kidney Transplant Outcome.
J Am Soc Nephrol
; 28(3): 811-822, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-27612998
11.
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.
Mol Genet Metab
; 121(3): 224-226, 2017 07.
Article
in English
| MEDLINE | ID: mdl-28529009
12.
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Muscle Nerve
; 55(6): 919-922, 2017 06.
Article
in English
| MEDLINE | ID: mdl-27438479
13.
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
Biol Res
; 49: 4, 2016 Jan 08.
Article
in English
| MEDLINE | ID: mdl-26742794
14.
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
Brain
; 137(Pt 8): 2329-45, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24934289
15.
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Hum Mol Genet
; 26(9): 1786, 2017 05 01.
Article
in English
| MEDLINE | ID: mdl-28475771
16.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
J Med Genet
; 50(10): 704-14, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23847141
17.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Ann Clin Transl Neurol
; 2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38703036
18.
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Brain
; 135(Pt 1): 23-34, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22189565
19.
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Mitochondrion
; 68: 138-144, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36509339
20.
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
Brain
; 139(Pt 4): e22, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26719380