251 related articles for article (PubMed ID: 30642748)
1. Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
Baide-Mairena H; Gaudó P; Marti-Sánchez L; Emperador S; Sánchez-Montanez A; Alonso-Luengo O; Correa M; Grau AM; Ortigoza-Escobar JD; Artuch R; Vázquez E; Del Toro M; Garrido-Pérez N; Ruiz-Pesini E; Montoya J; Bayona-Bafaluy MP; Pérez-Dueñas B
Mol Genet Metab; 2019 Mar; 126(3):250-258. PubMed ID: 30642748
[TBL] [Abstract][Full Text] [Related]
2. Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.
Bianciardi L; Imperatore V; Fernandez-Vizarra E; Lopomo A; Falabella M; Furini S; Galluzzi P; Grosso S; Zeviani M; Renieri A; Mari F; Frullanti E
Mol Genet Metab; 2016 Nov; 119(3):214-222. PubMed ID: 27623250
[TBL] [Abstract][Full Text] [Related]
3. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Johnstone T; Wang J; Ross D; Balanda N; Huang Y; Godfrey R; Groden C; Barton BR; Gahl W; Toro C; Malicdan MCV
Mol Genet Metab; 2020; 131(1-2):98-106. PubMed ID: 33097395
[TBL] [Abstract][Full Text] [Related]
4. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome.
Piekutowska-Abramczuk D; Mierzewska H; Bekiesińska-Figatowska M; Ciara E; Trubicka J; Pronicki M; Rokicki D; Rydzanicz M; Płoski R; Pronicka E
Folia Neuropathol; 2016; 54(4):405-409. PubMed ID: 28139822
[TBL] [Abstract][Full Text] [Related]
5. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.
Catania A; Ardissone A; Verrigni D; Legati A; Reyes A; Lamantea E; Diodato D; Tonduti D; Imperatore V; Pinto AM; Moroni I; Bertini E; Robinson A; Carrozzo R; Zeviani M; Ghezzi D
J Hum Genet; 2018 May; 63(5):563-568. PubMed ID: 29531337
[TBL] [Abstract][Full Text] [Related]
6.
Kim J; Lee J; Jang DH
Front Pediatr; 2022; 10():812408. PubMed ID: 35664867
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5.
Chen PS; Lee NC; Sung CJ; Liu YW; Weng WC; Fan PC; Lee WT; Chien YH; Wu CS; Sung YF; Tsai MC; Lee YC; Hsueh HW; Fan SM; Wu MC; Li H; Chen HY; Lin HI; Ou-Yang CH; Hwuh WL; Lin CH
Mov Disord; 2023 Dec; 38(12):2217-2229. PubMed ID: 37752895
[TBL] [Abstract][Full Text] [Related]
8. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová H; Piherová L; Tauchmannová K; Kidd K; Acott PD; Crocker JF; Oussedik Y; Mallet M; Hodaňová K; Stránecký V; Přistoupilová A; Barešová V; Jedličková I; Živná M; Sovová J; Hůlková H; Robins V; Vrbacký M; Pecina P; Kaplanová V; Houštěk J; Mráček T; Thibeault Y; Bleyer AJ; Kmoch S
Hum Mol Genet; 2016 Sep; 25(18):4062-4079. PubMed ID: 27466185
[TBL] [Abstract][Full Text] [Related]
9. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Gerards M; Sluiter W; van den Bosch BJ; de Wit LE; Calis CM; Frentzen M; Akbari H; Schoonderwoerd K; Scholte HR; Jongbloed RJ; Hendrickx AT; de Coo IF; Smeets HJ
J Med Genet; 2010 Aug; 47(8):507-12. PubMed ID: 19542079
[TBL] [Abstract][Full Text] [Related]
10. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
Ostergaard E; Rodenburg RJ; van den Brand M; Thomsen LL; Duno M; Batbayli M; Wibrand F; Nijtmans L
J Med Genet; 2011 Nov; 48(11):737-40. PubMed ID: 21617257
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
Balint B; Charlesworth G; Stamelou M; Carr L; Mencacci NE; Wood NW; Bhatia KP
Eur J Neurol; 2019 Sep; 26(9):1240-1243. PubMed ID: 30897263
[TBL] [Abstract][Full Text] [Related]
12. Long survival in Leigh syndrome: new cases and review of literature.
Aulbert W; Weigt-Usinger K; Thiels C; Köhler C; Vorgerd M; Schreiner A; Hoffjan S; Rothoeft T; Wortmann SB; Heyer CM; Podskarbi T; Lücke T
Neuropediatrics; 2014 Dec; 45(6):346-53. PubMed ID: 25111564
[TBL] [Abstract][Full Text] [Related]
13. Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
Lal D; Becker K; Motameny S; Altmüller J; Thiele H; Nürnberg P; Ahting U; Rolinski B; Neubauer BA; Hahn A
Neurogenetics; 2013 Feb; 14(1):85-7. PubMed ID: 23334465
[No Abstract] [Full Text] [Related]
14. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT; Eftekharian SS; Stover AE; Osborne AF; Braffman BH; Chang RC; Wang RY; Steenari MR; Tang S; Hwu PW; Taft RJ; Benke PJ; Abdenur JE
Mol Genet Metab; 2019 Jan; 126(1):53-63. PubMed ID: 30473481
[TBL] [Abstract][Full Text] [Related]
15. Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
Dermaut B; Seneca S; Dom L; Smets K; Ceulemans L; Smet J; De Paepe B; Tousseyn S; Weckhuysen S; Gewillig M; Pals P; Parizel P; De Bleecker JL; Boon P; De Meirleir L; De Jonghe P; Van Coster R; Van Paesschen W; Santens P
J Neurol Neurosurg Psychiatry; 2010 Jan; 81(1):90-3. PubMed ID: 20019223
[TBL] [Abstract][Full Text] [Related]
16. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL; Veling MT; Heidler J; Taylor LS; Alaimo JT; Sung AY; He L; Hopton S; Broomfield A; Pavaine J; Diaz J; Leon E; Wolf P; McFarland R; Prokisch H; Wortmann SB; Bonnen PE; Wittig I; Pagliarini DJ; Taylor RW
Am J Hum Genet; 2020 Jan; 106(1):92-101. PubMed ID: 31866046
[TBL] [Abstract][Full Text] [Related]
17. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M; Richard EM; Wang X; Shahzad M; Huang VH; Qaiser TA; Potluri P; Mahl SE; Davila A; Nazli S; Hancock S; Yu M; Gargus J; Chang R; Al-Sheqaih N; Newman WG; Abdenur J; Starr A; Hegde R; Dorn T; Busch A; Park E; Wu J; Schwenzer H; Flierl A; Florentz C; Sissler M; Khan SN; Li R; Guan MX; Friedman TB; Wu DK; Procaccio V; Riazuddin S; Wallace DC; Ahmed ZM; Huang T; Riazuddin S
PLoS Genet; 2015 Mar; 11(3):e1005097. PubMed ID: 25807530
[TBL] [Abstract][Full Text] [Related]
18. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D; Assouline Z; Mataković L; Feichtinger RG; Koňařiková E; Jurkiewicz E; Stawiński P; Gusic M; Koller A; Pollak A; Gasperowicz P; Trubicka J; Ciara E; Iwanicka-Pronicka K; Rokicki D; Hanein S; Wortmann SB; Sperl W; Rötig A; Prokisch H; Pronicka E; Płoski R; Barcia G; Mayr JA
Am J Hum Genet; 2018 Mar; 102(3):460-467. PubMed ID: 29429571
[TBL] [Abstract][Full Text] [Related]
19. Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
Danis D; Brennerova K; Skopkova M; Kurdiova T; Ukropec J; Stanik J; Kolnikova M; Gasperikova D
Endocr Regul; 2018 Apr; 52(2):110-118. PubMed ID: 29715184
[TBL] [Abstract][Full Text] [Related]
20. A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood.
Bi H; Guo H; Wang Q; Zhang X; Zhao Y; Li J; Zhao W; Tuo H; Zhang Y
Front Neurol; 2021; 12():675616. PubMed ID: 34177781
[No Abstract] [Full Text] [Related]
[Next] [New Search]
