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Journal Abstract Search

389 related items for PubMed ID: 37953352

  • 1. Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies.
    Sternberg Z.
    Mol Neurobiol; 2024 May; 61(5):2996-3018. PubMed ID: 37953352
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  • 7. 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; 70(3):215-223. PubMed ID: 29356298
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  • 9. 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
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  • 11. 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
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  • 14. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
    Lee NC, Chien YH, Hwu WL.
    Am J Med Genet C Semin Med Genet; 2019 Jun 12; 181(2):226-229. PubMed ID: 30614627
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  • 16. 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 12; 52():177-90. PubMed ID: 23275025
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  • 17. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
    Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C.
    Mol Genet Metab; 2019 Jun 12; 127(2):132-137. PubMed ID: 31104889
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  • 18. 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 12; 23(10):1572-81. PubMed ID: 26137853
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  • 19. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
    Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH.
    Mol Genet Metab; 2015 Oct 12; 115(2-3):91-4. PubMed ID: 25956449
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  • 20. Eladocagene Exuparvovec: First Approval.
    Keam SJ.
    Drugs; 2022 Sep 12; 82(13):1427-1432. PubMed ID: 36103022
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