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1.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
J Inherit Metab Dis
; 40(1): 121-130, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27696117
2.
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
3.
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Eur Heart J
; 37(32): 2552-9, 2016 Aug 21.
Article
in English
| MEDLINE | ID: mdl-26188002
4.
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
5.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 85(3): 331-8, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-23486992
6.
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.
Front Genet
; 11: 24, 2020.
Article
in English
| MEDLINE | ID: mdl-32158465
7.
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Neuromuscul Disord
; 29(9): 693-697, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31488384
8.
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Sci Rep
; 9(1): 5108, 2019 03 25.
Article
in English
| MEDLINE | ID: mdl-30911037
9.
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
EMBO Mol Med
; 10(6)2018 06.
Article
in English
| MEDLINE | ID: mdl-29735722
10.
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Neuromuscul Disord
; 28(4): 350-360, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29398297
11.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
EMBO Mol Med
; 10(11)2018 11.
Article
in English
| MEDLINE | ID: mdl-30201738
12.
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
JAMA Neurol
; 75(1): 105-113, 2018 01 01.
Article
in English
| MEDLINE | ID: mdl-29181510
13.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
EBioMedicine
; 30: 86-93, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29506874
14.
Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.
Br J Ophthalmol
; 101(9): 1298-1302, 2017 09.
Article
in English
| MEDLINE | ID: mdl-28729369
15.
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
Neuromuscul Disord
; 26(10): 702-705, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27618137
16.
Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.
Neurol Genet
; 2(4): e82, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27536729
17.
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Neurol Genet
; 6(2): e413, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-32337339
18.
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
Eur J Hum Genet
; 23(12): 1735-8, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-25873012
19.
Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Front Genet
; 6: 254, 2015.
Article
in English
| MEDLINE | ID: mdl-26284110
20.
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
Front Genet
; 6: 102, 2015.
Article
in English
| MEDLINE | ID: mdl-25852744