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Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Mov Disord. 2023 Jun;38(6):924-936. doi: 10.1002/mds.29416. Epub 2023 May 5.
Mov Disord. 2023.
PMID: 37147851
Free PMC article.
Review.
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ.
Tepe B, et al.
Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12.
Am J Hum Genet. 2023.
PMID: 37054711
Free PMC article.
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Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA.
Reid KM, et al.
Cells. 2023 Mar 30;12(7):1046. doi: 10.3390/cells12071046.
Cells. 2023.
PMID: 37048120
Free PMC article.
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Automated high-content imaging in iPSC-derived neuronal progenitors.
Papandreou A, Luft C, Barral S, Kriston-Vizi J, Kurian MA, Ketteler R.
Papandreou A, et al.
SLAS Discov. 2023 Mar;28(2):42-51. doi: 10.1016/j.slasd.2022.12.002. Epub 2023 Jan 5.
SLAS Discov. 2023.
PMID: 36610640
Free PMC article.
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