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Journal Abstract Search

250 related items for PubMed ID: 23275025

  • 1. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
    Lee NC, Shieh YD, Chien YH, Tzen KY, Yu IS, Chen PW, Hu MH, Hu MK, Muramatsu S, Ichinose H, Hwu WL.
    Neurobiol Dis; 2013 Apr; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

  • 2. A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
    Caine C, Shohat M, Kim JK, Nakanishi K, Homma S, Mosharov EV, Monani UR.
    Hum Mol Genet; 2017 Nov 15; 26(22):4406-4415. PubMed ID: 28973165
    [Abstract] [Full Text] [Related]

  • 3. Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.
    Lee NC, Muramatsu S, Chien YH, Liu WS, Wang WH, Cheng CH, Hu MK, Chen PW, Tzen KY, Byrne BJ, Hwu WL.
    Mol Ther; 2015 Oct 15; 23(10):1572-81. PubMed ID: 26137853
    [Abstract] [Full Text] [Related]

  • 4. AADC deficiency: occurring in humans, modeled in rodents.
    Hwu WL, Lee NC, Chien YH, Muramatsu S, Ichinose H.
    Adv Pharmacol; 2013 Oct 15; 68():273-84. PubMed ID: 24054149
    [Abstract] [Full Text] [Related]

  • 5. Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
    Hyland K, Reott M.
    Pediatr Neurol; 2020 May 15; 106():38-42. PubMed ID: 32111562
    [Abstract] [Full Text] [Related]

  • 6. Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
    Lee NC, Lee YM, Chen PW, Byrne BJ, Hwu WL.
    Hum Mol Genet; 2016 Dec 01; 25(23):5142-5147. PubMed ID: 27658936
    [Abstract] [Full Text] [Related]

  • 7. Functional effect of adeno-associated virus mediated gene transfer of aromatic L-amino acid decarboxylase into the striatum of 6-OHDA-lesioned rats.
    Sánchez-Pernaute R, Harvey-White J, Cunningham J, Bankiewicz KS.
    Mol Ther; 2001 Oct 01; 4(4):324-30. PubMed ID: 11592835
    [Abstract] [Full Text] [Related]

  • 8. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar 01; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 9. Gene therapy for aromatic L-amino acid decarboxylase deficiency.
    Hwu WL, Muramatsu S, Tseng SH, Tzen KY, Lee NC, Chien YH, Snyder RO, Byrne BJ, Tai CH, Wu RM.
    Sci Transl Med; 2012 May 16; 4(134):134ra61. PubMed ID: 22593174
    [Abstract] [Full Text] [Related]

  • 10. Unusually mild phenotype of AADC deficiency in 2 siblings.
    Tay SK, Poh KS, Hyland K, Pang YW, Ong HT, Low PS, Goh DL.
    Mol Genet Metab; 2007 Aug 16; 91(4):374-8. PubMed ID: 17533144
    [Abstract] [Full Text] [Related]

  • 11. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
    Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.
    Mol Genet Metab; 2016 Aug 16; 118(4):259-63. PubMed ID: 27216367
    [Abstract] [Full Text] [Related]

  • 12. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
    Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N.
    Mol Genet Metab; 2019 May 16; 127(1):12-22. PubMed ID: 30952622
    [Abstract] [Full Text] [Related]

  • 13. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
    Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB.
    Hum Mol Genet; 2013 Apr 15; 22(8):1615-24. PubMed ID: 23321058
    [Abstract] [Full Text] [Related]

  • 14. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
    Pearson TS, Gupta N, San Sebastian W, Imamura-Ching J, Viehoever A, Grijalvo-Perez A, Fay AJ, Seth N, Lundy SM, Seo Y, Pampaloni M, Hyland K, Smith E, de Oliveira Barbosa G, Heathcock JC, Minnema A, Lonser R, Elder JB, Leonard J, Larson P, Bankiewicz KS.
    Nat Commun; 2021 Jul 12; 12(1):4251. PubMed ID: 34253733
    [Abstract] [Full Text] [Related]

  • 15. Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
    Montioli R, Borri Voltattorni C.
    Int J Mol Sci; 2021 Mar 19; 22(6):. PubMed ID: 33808712
    [Abstract] [Full Text] [Related]

  • 16. Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
    Montioli R, Janson G, Paiardini A, Bertoldi M, Borri Voltattorni C.
    IUBMB Life; 2018 Mar 19; 70(3):215-223. PubMed ID: 29356298
    [Abstract] [Full Text] [Related]

  • 17. Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.
    Lee NC, Chien YH, Hu MH, Liu WS, Chen PW, Wang WH, Tzen KY, Byrne BJ, Hwu WL.
    Hum Gene Ther; 2014 Mar 19; 25(3):189-98. PubMed ID: 24251946
    [Abstract] [Full Text] [Related]

  • 18. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
    Montioli R, Dindo M, Giorgetti A, Piccoli S, Cellini B, Voltattorni CB.
    Hum Mol Genet; 2014 Oct 15; 23(20):5429-40. PubMed ID: 24865461
    [Abstract] [Full Text] [Related]

  • 19. Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies.
    Fiumara A, Bräutigam C, Hyland K, Sharma R, Lagae L, Stoltenborg B, Hoffmann GF, Jaeken J, Wevers RA.
    Neuropediatrics; 2002 Aug 15; 33(4):203-8. PubMed ID: 12368991
    [Abstract] [Full Text] [Related]

  • 20. A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.
    Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, Osaka H, Yamagata T.
    Brain Dev; 2016 Nov 15; 38(10):959-963. PubMed ID: 27371992
    [Abstract] [Full Text] [Related]

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