BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 32975148)

  • 1. Severe retinal degeneration in a patient with Canavan disease.
    Benson MD; Plemel DJA; Freund PR; Lewis JR; Sass JO; Bähr L; Gemperle-Britschgi C; Ferreira P; MacDonald IM
    Ophthalmic Genet; 2021 Feb; 42(1):75-78. PubMed ID: 32975148
    [No Abstract]   [Full Text] [Related]  

  • 2. Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
    Matalon RM; Michals-Matalon K
    Front Biosci; 2000 Mar; 5():D307-11. PubMed ID: 10704428
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
    Matalon R; Rady PL; Platt KA; Skinner HB; Quast MJ; Campbell GA; Matalon K; Ceci JD; Tyring SK; Nehls M; Surendran S; Wei J; Ezell EL; Szucs S
    J Gene Med; 2000; 2(3):165-75. PubMed ID: 10894262
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.
    Drenckhahn A; Schuelke M; Knierim E
    J Inherit Metab Dis; 2015 Sep; 38(5):983-4. PubMed ID: 25647544
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Eke GH; Iscan A; Cece H; Calik M
    Genet Couns; 2012; 23(1):9-12. PubMed ID: 22611636
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A case of Canavan disease with microcephaly.
    Gowda VK; Bhat MD; Srinivasan VM; Prasad C; Benakappa A; Faruq M
    Brain Dev; 2016 Sep; 38(8):759-62. PubMed ID: 26992473
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Canavan disease: clinical features and recent advances in research.
    Hoshino H; Kubota M
    Pediatr Int; 2014 Aug; 56(4):477-83. PubMed ID: 24977939
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
    Tacke U; Olbrich H; Sass JO; Fekete A; Horvath J; Ziyeh S; Kleijer WJ; Rolland MO; Fisher S; Payne S; Vargiami E; Zafeiriou DI; Omran H
    Neuropediatrics; 2005 Aug; 36(4):252-5. PubMed ID: 16138249
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Atypical MRI findings in Canavan disease: a patient with a mild course.
    Yalcinkaya C; Benbir G; Salomons GS; Karaarslan E; Rolland MO; Jakobs C; van der Knaap MS
    Neuropediatrics; 2005 Oct; 36(5):336-9. PubMed ID: 16217711
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutation in an Egyptian patient with infantile Canavan disease.
    Zaki OK; El Abd HS; Mohamed SA; Zayed H
    Metab Brain Dis; 2016 Jun; 31(3):573-7. PubMed ID: 26613958
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
    Durmaz AA; Akin H; Onay H; Vahabi A; Ozkinay F
    Fetal Pediatr Pathol; 2012 Aug; 31(4):236-9. PubMed ID: 22468686
    [TBL] [Abstract][Full Text] [Related]  

  • 12. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
    Di Pietro V; Cavallari U; Amorini AM; Lazzarino G; Longo S; Poggiani C; Cavalli P; Tavazzi B
    Clin Biochem; 2013 Dec; 46(18):1902-4. PubMed ID: 24036223
    [TBL] [Abstract][Full Text] [Related]  

  • 13. N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
    Francis JS; Wojtas I; Markov V; Gray SJ; McCown TJ; Samulski RJ; Bilaniuk LT; Wang DJ; De Vivo DC; Janson CG; Leone P
    Neurobiol Dis; 2016 Dec; 96():323-334. PubMed ID: 27717881
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Canavan disease: studies on the knockout mouse.
    Matalon R; Michals-Matalon K; Surendran S; Tyring SK
    Adv Exp Med Biol; 2006; 576():77-93; discussion 361-3. PubMed ID: 16802706
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
    Traka M; Wollmann RL; Cerda SR; Dugas J; Barres BA; Popko B
    J Neurosci; 2008 Nov; 28(45):11537-49. PubMed ID: 18987190
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Atypical clinical and radiological course of a patient with Canavan disease.
    Sarret C; Boespflug-Tanguy O; Rodriguez D
    Metab Brain Dis; 2016 Apr; 31(2):475-9. PubMed ID: 26586007
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Canavan disease: a monogenic trait with complex genomic interaction.
    Surendran S; Michals-Matalon K; Quast MJ; Tyring SK; Wei J; Ezell EL; Matalon R
    Mol Genet Metab; 2003; 80(1-2):74-80. PubMed ID: 14567959
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
    von Jonquieres G; Spencer ZHT; Rowlands BD; Klugmann CB; Bongers A; Harasta AE; Parley KE; Cederholm J; Teahan O; Pickford R; Delerue F; Ittner LM; Fröhlich D; McLean CA; Don AS; Schneider M; Housley GD; Rae CD; Klugmann M
    Acta Neuropathol; 2018 Jan; 135(1):95-113. PubMed ID: 29116375
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Megalencephaly with dystonia revealing Canavan disease].
    Maaloul I; Fourati H; Wali M; Chabchoub I; Kamoun T; Mnif Z; Kaabachi N; Hachicha M
    Arch Pediatr; 2013 Jul; 20(7):783-6. PubMed ID: 23727372
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.
    Sohn J; Bannerman P; Guo F; Burns T; Miers L; Croteau C; Singhal NK; McDonough JA; Pleasure D
    J Neurosci; 2017 Jan; 37(2):413-421. PubMed ID: 28077719
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.