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Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central nervous system, including Alzheimer's disease, Parkinson's disease, Canavan disease, aromatic
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular my …
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabol
Neuromelanin in Parkinson's Disease: Tyrosine Hydroxylase and Tyrosinase.
Nagatsu T, Nakashima A, Watanabe H, Ito S, Wakamatsu K. Nagatsu T, et al. Int J Mol Sci. 2022 Apr 10;23(8):4176. doi: 10.3390/ijms23084176. Int J Mol Sci. 2022. PMID: 35456994 Free PMC article. Review.
The main symptoms of PD are movement disorders accompanied with deficiency of neurotransmitter dopamine (DA) in the striatum due to cell death of the nigrostriatal DA neurons. ...The synthesis of human NM is regarded to be similar to that of melanin in melanocytes; melanin …
The main symptoms of PD are movement disorders accompanied with deficiency of neurotransmitter dopamine (DA) in the striatum due to c …
AAV vectors applied to the treatment of CNS disorders: Clinical status and challenges.
Kang L, Jin S, Wang J, Lv Z, Xin C, Tan C, Zhao M, Wang L, Liu J. Kang L, et al. J Control Release. 2023 Mar;355:458-473. doi: 10.1016/j.jconrel.2023.01.067. Epub 2023 Feb 13. J Control Release. 2023. PMID: 36736907 Free article. Review.
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic l-amino acid decarboxylase deficiency, Luxturna for hereditary retinal dystrophy, and Zolgensma for spinal …
Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic
Adeno-associated viruses for gene therapy - clinical implications and liver-related complications, a guide for hepatologists.
Mücke MM, Fong S, Foster GR, Lillicrap D, Miesbach W, Zeuzem S. Mücke MM, et al. J Hepatol. 2024 Feb;80(2):352-361. doi: 10.1016/j.jhep.2023.10.029. Epub 2023 Oct 27. J Hepatol. 2024. PMID: 37890721 Free article. Review.
Several AAV-based therapeutics have received regulatory approval in the last few years including those for retinal disease, spinal muscular atrophy or aromatic L-amino acid decarboxylase deficiency. Lately, with the introduction of novel …
Several AAV-based therapeutics have received regulatory approval in the last few years including those for retinal disease, spinal muscular …
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R, Borri Voltattorni C. Montioli R, et al. Int J Mol Sci. 2021 Mar 19;22(6):3146. doi: 10.3390/ijms22063146. Int J Mol Sci. 2021. PMID: 33808712 Free PMC article. Review.
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the DDC gene, leading to a deficit of AADC, a pyridoxal 5'-phosphate requiring enzyme that catalyzes the decarboxylation of L-Dopa and L-5-hydr …
Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the …
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan.
Lee NC, Chien YH, Hwu WL. Lee NC, et al. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):226-229. doi: 10.1002/ajmg.c.31670. Epub 2019 Jan 7. Am J Med Genet C Semin Med Genet. 2019. PMID: 30614627 Review.
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in South East Asia. ...
Aromatic l-amino acid decarboxylase deficiency (AADCD) is a rare inherited disease prevalent in So
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS. Roubertie A, et al. J Inherit Metab Dis. 2024 May;47(3):463-475. doi: 10.1002/jimd.12649. Epub 2023 Jul 17. J Inherit Metab Dis. 2024. PMID: 37402126 Review.
The autosomal recessive defect of aromatic L-amino acid decarboxylase (AADC) leads to a severe neurological disorder with manifestation in infancy due to a pronounced, combined deficiency of dopamine, serotonin and catecholamines. ...This …
The autosomal recessive defect of aromatic L-amino acid decarboxylase (AADC) leads to a severe neurologic …
Neurodegenerative Etiology of Aromatic L-Amino Acid Decarboxylase Deficiency: a Novel Concept for Expanding Treatment Strategies.
Sternberg Z. Sternberg Z. Mol Neurobiol. 2024 May;61(5):2996-3018. doi: 10.1007/s12035-023-03684-2. Epub 2023 Nov 13. Mol Neurobiol. 2024. PMID: 37953352 Review.
Aromatic l-amino acid decarboxylase deficiency (AADC-DY) is caused by one or more mutations in the DDC gene, resulting in the deficit in catecholamines and serotonin neurotransmitters. ...
Aromatic l-amino acid decarboxylase deficiency (AADC-DY) is caused by one or more mutations in the
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. Himmelreich N, et al. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. ...New metabolomics techniques promis
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessi
55 results