Výsledky vyhledávání - "Jaime N Young"

Akademický článek

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

Autor: Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli

Publikováno v: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)

Abstract Background Congenital Myasthenic Syndromes (CMS) are rare genetic diseases, which share as a common denominator muscle fatigability due to failure of neuromuscular transmission. A distinctive clinical feature of presynaptic CMS variants caus

Externí odkaz: https://doaj.org/article/4f011b51e66d4d5fb4a9144d6fe805b8

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Akademický článek

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.

Autor: Muntadas, Javier A¹ (AUTHOR), Hyland, Martin R¹ (AUTHOR), Martínez, Maria Del Rosario Ortolá¹ (AUTHOR), Young, Jaime N² (AUTHOR), Chong, Jessica X^3,4 (AUTHOR), Bamshad, Michael J^3,4,5 (AUTHOR), Maselli, Ricardo A.² (AUTHOR) ramaselli@ucdavis.edu

Publikováno v: BMC Medical Genomics. 8/12/2024, Vol. 17 Issue 1, p1-6. 6p.

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Akademický článek

Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice.

Autor: Lin, Cameron V., Thomas, Clementine A.D., Huynh, Thanh L., Wei, David T., Young, Jaime N., Aivazian, Anahid S., McInnes, Abigail, Xu, Jixiang, Cook, Sarah E., Vazquez, Jessica, Maselli, Ricardo A.

Publikováno v: Human Gene Therapy; Feb2024, Vol. 35 Issue 3/4, p123-131, 9p

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Periodical

Studies from University of California Davis Have Provided New Information about Gene Therapy (Adeno-associated Virus Type 9-mediated Gene Therapy of Choline Acetyltransferase-deficient Mice).

Publikováno v: Gene Therapy Weekly; 5/2/2024, p2462-2462, 1p

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