These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

302 related articles for article (PubMed ID: 23918762)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
    Yuen L; Sahai I; O'Grady L; Selig M; Walker MA; Shah U; Misdraji J
    Am J Med Genet A; 2022 Sep; 188(9):2760-2765. PubMed ID: 35781780
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
    Fellman V; Banerjee R; Lin KL; Pulli I; Cooper H; Tyynismaa H; Kallijärvi J
    Biochim Biophys Acta Mol Basis Dis; 2022 Jan; 1868(1):166298. PubMed ID: 34751152
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
    Snanoudj S; Mordel P; Dupas Q; Schanen C; Arion A; Gérard M; Read MH; Nait Rabah D; Goux D; Chapon F; Jokic M; Allouche S
    Mol Genet Genomic Med; 2019 Aug; 7(8):e815. PubMed ID: 31251474
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
    Roeben B; Schüle R; Ruf S; Bender B; Alhaddad B; Benkert T; Meitinger T; Reich S; Böhringer J; Langhans CD; Vaz FM; Wortmann SB; Marquardt T; Haack TB; Krägeloh-Mann I; Schöls L; Synofzik M
    J Med Genet; 2018 Jan; 55(1):39-47. PubMed ID: 28916646
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.
    Radha Rama Devi A; Lingappa L
    Eur J Med Genet; 2018 Feb; 61(2):100-103. PubMed ID: 28778788
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
    Tort F; García-Silva MT; Ferrer-Cortès X; Navarro-Sastre A; Garcia-Villoria J; Coll MJ; Vidal E; Jiménez-Almazán J; Dopazo J; Briones P; Elpeleg O; Ribes A
    Mol Genet Metab; 2013; 110(1-2):73-7. PubMed ID: 23707711
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.
    Kanabus M; Shahni R; Saldanha JW; Murphy E; Plagnol V; Hoff WV; Heales S; Rahman S
    J Inherit Metab Dis; 2015 Mar; 38(2):211-9. PubMed ID: 25595726
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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.
    Schwartzentruber J; Buhas D; Majewski J; Sasarman F; Papillon-Cavanagh S; Thiffault I; Sheldon KM; Massicotte C; Patry L; Simon M; Zare AS; McKernan KJ; ; Michaud J; Boles RG; Deal CL; Desilets V; Shoubridge EA; Samuels ME
    Hum Mutat; 2014 Nov; 35(11):1285-9. PubMed ID: 25130867
    [TBL] [Abstract][Full Text] [Related]  

  • 16. First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.
    Felhi R; Monastiri K; Ben Hamida H; Ammar M; Chioukh FZ; Tabarki B; Chouchen J; Fakhfakh F; Tlili A; Mkaouar-Rebai E
    Int J Dev Neurosci; 2022 Dec; 82(8):736-747. PubMed ID: 35943861
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Expanding the clinical phenotype of IARS2-related mitochondrial disease.
    Vona B; Maroofian R; Bellacchio E; Najafi M; Thompson K; Alahmad A; He L; Ahangari N; Rad A; Shahrokhzadeh S; Bahena P; Mittag F; Traub F; Movaffagh J; Amiri N; Doosti M; Boostani R; Shirzadeh E; Haaf T; Diodato D; Schmidts M; Taylor RW; Karimiani EG
    BMC Med Genet; 2018 Nov; 19(1):196. PubMed ID: 30419932
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.