A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes
Author:
Funder
Noah’s Hope/Hope 4 Bridget Foundation
NIGMS COBRE
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Neurology (clinical),Pharmacology
Link
https://link.springer.com/content/pdf/10.1007/s13311-022-01296-7.pdf
Reference69 articles.
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2. Shyng C, Nelvagal HR, Dearborn JT, et al. Synergistic effects of treating the spinal cord and brain in CLN1 disease. Proc Natl Acad Sci U S A. 2017;114(29):E5920–9.
3. Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol. 2004;14(1):61–9.
4. Gardner E, Mole SE. The genetic basis of phenotypic heterogeneity in the neuronal ceroid lipofuscinoses. Front Neurol. 2021;12:754045.
5. Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012;33(1):42–63.
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