1 |
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
25
|
Friederich MW...Van Hove JLK
|
32160317 |
2020 |
2 |
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
25
|
De Vries MC...Mancuso M
|
32030781 |
2020 |
3 |
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.
25
|
Oktay Y...Horvath R
|
32444556 |
2020 |
4 |
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
25
|
Alston CL...Taylor RW
|
31866046 |
2020 |
5 |
Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
25
|
Borna NN...Okazaki Y
|
30607703 |
2019 |
6 |
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
25
|
Hayhurst H...Ng YS
|
30911575 |
2019 |
7 |
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
25
|
Barca E...Falk MJ
|
29917077 |
2018 |
8 |
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.
25
|
Smith AC...Penney LS
|
29560582 |
2018 |
9 |
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
25
|
Maas RR...Wortmann SB
|
29205472 |
2017 |
10 |
NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
25
|
Baertling F...Nijtmans LGJ
|
28853723 |
2017 |
11 |
Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
25
|
Jonsson H...Stefansson K
|
28959963 |
2017 |
12 |
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
25
|
Lake NJ...Thorburn DR
|
28777931 |
2017 |
13 |
Genetic diagnosis of Mendelian disorders via RNA sequencing.
25
|
Kremer LS...Prokisch H
|
28604674 |
2017 |
14 |
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
25
|
Renkema GH...Rodenburg RJT
|
28386624 |
2017 |
15 |
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
25
|
Riley LG...Christodoulou J
|
27995398 |
2017 |
16 |
Leigh map: A novel computational diagnostic resource for mitochondrial disease.
25
|
Rahman J...Rahman S
|
27977873 |
2017 |
17 |
DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
25
|
Zaha K...Nonoyama S
|
27301544 |
2016 |
18 |
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
25
|
Janer A...Shoubridge EA
|
27390132 |
2016 |
19 |
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
25
|
Floyd BJ...Pagliarini DJ
|
27499296 |
2016 |
20 |
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
25
|
Koch J...Haack TB
|
26783368 |
2016 |
21 |
Timing, rates and spectra of human germline mutation.
25
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
22 |
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
25
|
Hallmann K...Kunz WS
|
26685157 |
2016 |
23 |
Leigh syndrome: One disorder, more than 75 monogenic causes.
25
|
Lake NJ...Thorburn DR
|
26506407 |
2016 |
24 |
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
25
|
Cameron JM...Schulze A
|
26008862 |
2015 |
25 |
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.
25
|
Fukumura S...Tsutsumi H
|
26016410 |
2015 |
26 |
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
25
|
Abrams AJ...Dallman JE
|
26168012 |
2015 |
27 |
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
25
|
Simon M...Riazuddin S
|
25807530 |
2015 |
28 |
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
25
|
Sakai C...Goto Y
|
25393721 |
2015 |
29 |
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
25
|
Saunders C...Ostergaard E
|
25597511 |
2015 |
30 |
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
25
|
Kopajtich R...Prokisch H
|
25434004 |
2014 |
31 |
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
25
|
Schwartzentruber J...Samuels ME
|
25130867 |
2014 |
32 |
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.
25
|
Peters H...Pitt J
|
25125611 |
2014 |
33 |
Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.
25
|
Ahola S...Suomalainen A
|
25037205 |
2014 |
34 |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
25
|
Taylor RW...Chinnery PF
|
25058219 |
2014 |
35 |
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
25
|
Tort F...Ribes A
|
24256811 |
2014 |
36 |
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
25
|
Lim SC...Thorburn DR
|
24462369 |
2014 |
37 |
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
25
|
Baker PR...Van Hove JL
|
24334290 |
2014 |
38 |
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
25
|
Ferdinandusse S...Rahman S
|
24299452 |
2013 |
39 |
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
25
|
Soreze Y...de Lonlay P
|
24341803 |
2013 |
40 |
Treatable Leigh-like encephalopathy presenting in adolescence.
25
|
Fassone E...Rahman S
|
24099834 |
2013 |
41 |
Anesthetic considerations in patients with mitochondrial defects.
25
|
Niezgoda J...Morgan PG
|
23534340 |
2013 |
42 |
SURF1 deficiency: a multi-centre natural history study.
25
|
Wedatilake Y...Rahman S
|
23829769 |
2013 |
43 |
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
25
|
Pitceathly RD...UK10K Consortium
|
23746447 |
2013 |
44 |
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
25
|
Gerards M...Smeets H
|
23423671 |
2013 |
45 |
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.
25
|
Quinonez SC...Bedoyan JK
|
23290025 |
2013 |
46 |
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
25
|
Vedrenne V...Rotig A
|
23084291 |
2012 |
47 |
EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.
25
|
Martinelli D...Miller G
|
23010433 |
2012 |
48 |
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
25
|
Ohlenbusch A...Brockmann K
|
22995659 |
2012 |
49 |
Complex I deficiency: clinical features, biochemistry and molecular genetics.
25
|
Fassone E...Rahman S
|
22972949 |
2012 |
50 |
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
25
|
Patel KP...Stacpoole PW
|
22896851 |
2012 |