152 related articles for article (PubMed ID: 25642805)
1. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.
Wortmann SB; van Hasselt PM; Barić I; Burlina A; Darin N; Hörster F; Coker M; Ucar SK; Krumina Z; Naess K; Ngu LH; Pronicka E; Riordan G; Santer R; Wassmer E; Zschocke J; Schiff M; de Meirleir L; Alowain MA; Smeitink JA; Morava E; Kozicz T; Wevers RA; Wolf NI; Willemsen MA
Neuropediatrics; 2015 Apr; 46(2):98-103. PubMed ID: 25642805
[TBL] [Abstract][Full Text] [Related]
2. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.
Ünal Ö; Özgül RK; Yücel D; Yalnızoğlu D; Tokatlı A; Sivri HS; Hişmi B; Coşkun T; Dursun A
Turk J Pediatr; 2015; 57(4):388-393. PubMed ID: 27186703
[TBL] [Abstract][Full Text] [Related]
3. Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report.
Alshammari SA; Alghamdi FA; Alhazmi R; Aldossary S
Case Rep Neurol; 2021; 13(2):429-433. PubMed ID: 34326751
[TBL] [Abstract][Full Text] [Related]
4. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.
Giron C; Roze E; Degos B; Méneret A; Jardel C; Lannuzel A; Mochel F
Tremor Other Hyperkinet Mov (N Y); 2018; 8():554. PubMed ID: 29686941
[TBL] [Abstract][Full Text] [Related]
5. MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
Dweikat IM; Abdelrazeq S; Ayesh S; Jundi T
J Child Neurol; 2015 Jul; 30(8):1053-6. PubMed ID: 25051967
[TBL] [Abstract][Full Text] [Related]
6. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR; Iwanicka-Pronicka K; Kalkan Ucar S; Alhaddad B; AlSayed M; Al-Owain MA; Al-Zaidan HI; Balasubramaniam S; Barić I; Bubshait DK; Burlina A; Christodoulou J; Chung WK; Colombo R; Darin N; Freisinger P; Garcia Silva MT; Grunewald S; Haack TB; van Hasselt PM; Hikmat O; Hörster F; Isohanni P; Ramzan K; Kovacs-Nagy R; Krumina Z; Martin-Hernandez E; Mayr JA; McClean P; De Meirleir L; Naess K; Ngu LH; Pajdowska M; Rahman S; Riordan G; Riley L; Roeben B; Rutsch F; Santer R; Schiff M; Seders M; Sequeira S; Sperl W; Staufner C; Synofzik M; Taylor RW; Trubicka J; Tsiakas K; Unal O; Wassmer E; Wedatilake Y; Wolff T; Prokisch H; Morava E; Pronicka E; Wevers RA; de Brouwer AP; Wortmann SB
Ann Neurol; 2017 Dec; 82(6):1004-1015. PubMed ID: 29205472
[TBL] [Abstract][Full Text] [Related]
7. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S; Rodenburg RJ; Huizing M; Loupatty FJ; de Koning T; Kluijtmans LA; Engelke U; Wevers R; Smeitink JA; Morava E
Mol Genet Metab; 2006 May; 88(1):47-52. PubMed ID: 16527507
[TBL] [Abstract][Full Text] [Related]
8. Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Harbulot C; Paquay S; Dorboz I; Pichard S; Bourillon A; Benoist JF; Jardel C; Ogier de Baulny H; Boespflug-Tanguy O; Schiff M
Mol Genet Metab Rep; 2016 Jun; 7():8-10. PubMed ID: 27331002
[TBL] [Abstract][Full Text] [Related]
9. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
Sarig O; Goldsher D; Nousbeck J; Fuchs-Telem D; Cohen-Katsenelson K; Iancu TC; Manov I; Saada A; Sprecher E; Mandel H
Am J Med Genet A; 2013 Sep; 161A(9):2204-15. PubMed ID: 23918762
[TBL] [Abstract][Full Text] [Related]
10. MEGDEL Syndrome.
Finsterer J; Scorza FA; Fiorini AC; Scorza CA
Pediatr Neurol; 2020 Sep; 110():25-29. PubMed ID: 32684373
[TBL] [Abstract][Full Text] [Related]
11. Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Mohammad SS; Angiti RR; Biggin A; Morales-Briceño H; Goetti R; Perez-Dueñas B; Gregory A; Hogarth P; Ng J; Papandreou A; Bhattacharya K; Rahman S; Prelog K; Webster RI; Wassmer E; Hayflick S; Livingston J; Kurian M; Chong WK; Dale RC;
Brain Commun; 2020; 2(2):fcaa178. PubMed ID: 33629063
[TBL] [Abstract][Full Text] [Related]
12. Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
Karkucinska-Wieckowska A; Lebiedzinska M; Jurkiewicz E; Pajdowska M; Trubicka J; Szymanska-Debinska T; Suski J; Pinton P; Duszynski J; Pronicki M; Wieckowski MR; Pronicka E
Folia Neuropathol; 2011; 49(1):56-63. PubMed ID: 21455844
[TBL] [Abstract][Full Text] [Related]
13. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R; Dionisi-Vici C; Steuerwald U; Lucioli S; Deodato F; Di Giandomenico S; Bertini E; Franke B; Kluijtmans LA; Meschini MC; Rizzo C; Piemonte F; Rodenburg R; Santer R; Santorelli FM; van Rooij A; Vermunt-de Koning D; Morava E; Wevers RA
Brain; 2007 Mar; 130(Pt 3):862-74. PubMed ID: 17301081
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.
Alagoz M; Kherad N; Turkmen S; Bulut H; Yuksel A
Exp Ther Med; 2020 Jun; 19(6):3505-3512. PubMed ID: 32346411
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB; Vaz FM; Gardeitchik T; Vissers LE; Renkema GH; Schuurs-Hoeijmakers JH; Kulik W; Lammens M; Christin C; Kluijtmans LA; Rodenburg RJ; Nijtmans LG; Grünewald A; Klein C; Gerhold JM; Kozicz T; van Hasselt PM; Harakalova M; Kloosterman W; Barić I; Pronicka E; Ucar SK; Naess K; Singhal KK; Krumina Z; Gilissen C; van Bokhoven H; Veltman JA; Smeitink JA; Lefeber DJ; Spelbrink JN; Wevers RA; Morava E; de Brouwer AP
Nat Genet; 2012 Jun; 44(7):797-802. PubMed ID: 22683713
[TBL] [Abstract][Full Text] [Related]
16. SERAC1 Deficiency- A New Phenotype.
Martins E; Durães J; Nogueira C; Gomes J; Vilarinho L; Macário C
Endocr Metab Immune Disord Drug Targets; 2023 Sep; ():. PubMed ID: 37711114
[TBL] [Abstract][Full Text] [Related]
17. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I; Neumaier-Probst E; Seitz A; Maier EM; Assmann B; Baric I; Troncoso M; Mühlhausen C; Zschocke J; Boy NP; Hoffmann GF; Garbade SF; Kölker S
Brain; 2009 Jul; 132(Pt 7):1764-82. PubMed ID: 19433437
[TBL] [Abstract][Full Text] [Related]
18. LPGAT1 controls MEGDEL syndrome by coupling phosphatidylglycerol remodeling with mitochondrial transport.
Sun H; Zhang J; Ye Q; Jiang T; Liu X; Zhang X; Zeng F; Li J; Zheng Y; Han X; Su C; Shi Y
Cell Rep; 2023 Nov; 42(11):113214. PubMed ID: 37917582
[TBL] [Abstract][Full Text] [Related]
19. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
Tranebjaerg L; Jensen PK; Van Ghelue M; Vnencak-Jones CL; Sund S; Elgjo K; Jakobsen J; Lindal S; Warburg M; Fuglsang-Frederiksen A; Skullerud K
Ophthalmic Genet; 2001 Dec; 22(4):207-23. PubMed ID: 11803487
[TBL] [Abstract][Full Text] [Related]
20. Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia.
Alfaraidi AT; ALSulimani NK; Garout W
Cureus; 2024 Mar; 16(3):e55308. PubMed ID: 38559521
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]