121 related articles for article (PubMed ID: 34888988)
1. Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
Finsterer J
Hum Mutat; 2022 Jan; 43(1):97-98. PubMed ID: 34888988
[No Abstract] [Full Text] [Related]
2. Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
Torraco A; Maroofian R; Rötig A; Bertini E; Ghezzi D; Carrozzo R; Diodato D
Hum Mutat; 2022 Jan; 43(1):99-100. PubMed ID: 34888984
[No Abstract] [Full Text] [Related]
3. 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]
4. NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4
Adjobo-Hermans MJW; de Haas R; Willems PHGM; Wojtala A; van Emst-de Vries SE; Wagenaars JA; van den Brand M; Rodenburg RJ; Smeitink JAM; Nijtmans LG; Sazanov LA; Wieckowski MR; Koopman WJH
Biochim Biophys Acta Bioenerg; 2020 Aug; 1861(8):148213. PubMed ID: 32335026
[TBL] [Abstract][Full Text] [Related]
5. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Torraco A; Nasca A; Verrigni D; Pennisi A; Zaki MS; Olivieri G; Assouline Z; Martinelli D; Maroofian R; Rizza T; Di Nottia M; Invernizzi F; Lamantea E; Longo D; Houlden H; Prokisch H; Rötig A; Dionisi-Vici C; Bertini E; Ghezzi D; Carrozzo R; Diodato D
Hum Mutat; 2021 Jun; 42(6):699-710. PubMed ID: 33715266
[TBL] [Abstract][Full Text] [Related]
6. Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders.
Legro NR; Kumar A; Aliu E
Am J Med Genet A; 2022 Mar; 188(3):896-899. PubMed ID: 34797029
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.
Ma YY; Wu TF; Liu YP; Wang Q; Li XY; Zhang Y; Song JQ; Wang YJ; Yang YL
Mitochondrial DNA; 2013 Feb; 24(1):67-73. PubMed ID: 22947169
[TBL] [Abstract][Full Text] [Related]
9. Biallelic Loss-of-Function
Magrinelli F; Cali E; Braga VL; Yis U; Tomoum H; Shamseldin H; Raiman J; Kernstock C; Rezende Filho FM; Barsottini OGP; Taylor RW; Østergaard E; Tamim A; Schäferhoff K; Sallum JMF; Zaki MS; Kok F; Bhatia KP; Wissinger B; Sergeant K; Haack TB; Horvath R; Hiz S; Alkuraya FS; Houlden H; Pedroso JL; Maroofian R
Mov Disord Clin Pract; 2022 Feb; 9(2):218-228. PubMed ID: 35141356
[TBL] [Abstract][Full Text] [Related]
10. Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.
Petruzzella V; Di Giacinto G; Scacco S; Piemonte F; Torraco A; Carrozzo R; Vergari R; Dionisi-Vici C; Longo D; Tessa A; Papa S; Bertini E
Neurology; 2003 Oct; 61(7):1017-8. PubMed ID: 14557590
[No Abstract] [Full Text] [Related]
11. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.
Gerards M; Sallevelt SC; Smeets HJ
Mol Genet Metab; 2016 Mar; 117(3):300-12. PubMed ID: 26725255
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial DNA depletion in Leigh syndrome.
Filiano JJ; Goldenthal MJ; Mamourian AC; Hall CC; Marín-García J
Pediatr Neurol; 2002 Mar; 26(3):239-42. PubMed ID: 11955936
[TBL] [Abstract][Full Text] [Related]
13. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
Crimi M; Galbiati S; Moroni I; Bordoni A; Perini MP; Lamantea E; Sciacco M; Zeviani M; Biunno I; Moggio M; Scarlato G; Comi GP
Neurology; 2003 Jun; 60(11):1857-61. PubMed ID: 12796552
[TBL] [Abstract][Full Text] [Related]
14. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
Chol M; Lebon S; Bénit P; Chretien D; de Lonlay P; Goldenberg A; Odent S; Hertz-Pannier L; Vincent-Delorme C; Cormier-Daire V; Rustin P; Rötig A; Munnich A
J Med Genet; 2003 Mar; 40(3):188-91. PubMed ID: 12624137
[TBL] [Abstract][Full Text] [Related]
15. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Brautbar A; Wang J; Abdenur JE; Chang RC; Thomas JA; Grebe TA; Lim C; Weng SW; Graham BH; Wong LJ
Mol Genet Metab; 2008 Aug; 94(4):485-490. PubMed ID: 18495510
[TBL] [Abstract][Full Text] [Related]
16. [The molecular background of Leigh syndrome].
Piekutowska-Abramczuk D
Neurol Neurochir Pol; 2008; 42(3):238-50. PubMed ID: 18651330
[TBL] [Abstract][Full Text] [Related]
17. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.
Leng Y; Liu Y; Fang X; Li Y; Yu L; Yuan Y; Wang Z
Mitochondrial DNA; 2015 Apr; 26(2):208-12. PubMed ID: 24708134
[TBL] [Abstract][Full Text] [Related]
18. The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Nesbitt V; Morrison PJ; Crushell E; Donnelly DE; Alston CL; He L; McFarland R; Taylor RW
Dev Med Child Neurol; 2012 Jun; 54(6):500-6. PubMed ID: 22364517
[TBL] [Abstract][Full Text] [Related]
19. [Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene].
Jimenez-Legido M; Bernardino-Cuesta B; Lopez-Marin L; Cantarin-Extremera V; Blazquez-Encinar A; Martin-Casanueva MA; Gutierrez-Solana LG
Rev Neurol; 2019 Apr; 68(7):312-314. PubMed ID: 30906981
[TBL] [Abstract][Full Text] [Related]
20. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
Bénit P; Slama A; Cartault F; Giurgea I; Chretien D; Lebon S; Marsac C; Munnich A; Rötig A; Rustin P
J Med Genet; 2004 Jan; 41(1):14-7. PubMed ID: 14729820
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
