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of 4
pro vyhledávání: '"Kevin Knoernschild"'
Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model
Autor:
Kevin Knoernschild, Hans J. Johnson, Kimberly E. Schroeder, Vicki J. Swier, Katherine A. White, Takashi S. Sato, Christopher S. Rogers, Jill M. Weimer, Jessica C. Sieren
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease (Batten disease) is a rare pediatric disease, with symptom development leading to clinical diagnosis. Early diagnosis and effective tracking of disease progression are requi
Externí odkaz:
https://doaj.org/article/ae674f749002440bacb75763026cfd62
Publikováno v:
Algorithms, Vol 16, Iss 2, p 116 (2023)
Translation of basic animal research to find effective methods of diagnosing and treating human neurological disorders requires parallel analysis infrastructures. Small animals such as mice provide exploratory animal disease models. However, many int
Externí odkaz:
https://doaj.org/article/23e7e839fefb4f5aab25dfdc41c00fb8
Autor:
Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Jessica C. Sieren, Hans J. Johnson, Kevin Knoernschild, Xiaojun Wang, Frank A. Rohret, Christopher S. Rogers, David A. Pearce, Jon J. Brudvig, Jill M. Weimer
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 19(6)
CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to reduced activity in the enzyme tripeptidyl peptidase 1. The disease typically manifests around 2 to 4 years of age with developmental delay, ataxia, seizures, in