Jill M. Weimer, Ph.D.

Affiliations: 
2006 University of Rochester, Rochester, NY 
Area:
Neuroscience Biology
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"Jill Weimer"
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Eva Anton grad student
Howard J. Federoff grad student 2006 Rochester
 (Systematic analysis of cellular and behavioural changes in the Cln3-/- mouse model of Batten disease.)
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Publications

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Meyerink BL, Karia KS, Rechtzigel MJ, et al. (2024) Mutation in leads to early motor dysfunction and widespread aberrant axon terminals in a beta-propeller protein associated neurodegeneration (BPAN) patient-inspired mouse model. Biorxiv : the Preprint Server For Biology
Han J, Chear S, Talbot J, et al. (2024) Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease. Investigative Ophthalmology & Visual Science. 65: 23
Byrne BJ, Parenti G, Schoser B, et al. (2024) Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease. Frontiers in Neurology. 15: 1451512
Han J, Chear S, Talbot J, et al. (2024) Genetic and cellular basis of impaired phagocytosis and photoreceptor degeneration in CLN3 disease. Biorxiv : the Preprint Server For Biology
Brudvig JJ, Tuske S, Castelli J, et al. (2024) Comments on: Increasing Enzyme Mannose-6-Phosphate Levels but Not Miglustat Coadministration Enhances the Efficacy of Enzyme Replacement Therapy in Pompe Mice. The Journal of Pharmacology and Experimental Therapeutics. 389: 310-312
Schulz A, Patel N, Brudvig JJ, et al. (2024) The parent and family impact of CLN3 disease: an observational survey-based study. Orphanet Journal of Rare Diseases. 19: 125
Leppert HG, Anderson JT, Timm KJ, et al. (2023) Sortilin inhibition treats multiple neurodegenerative lysosomal storage disorders. Biorxiv : the Preprint Server For Biology
Centa JL, Stratton MP, Pratt MA, et al. (2023) Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach. Molecular Therapy. Nucleic Acids. 33: 15-27
Swier VJ, White KA, Johnson TB, et al. (2023) A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes. Disease Models & Mechanisms
Johnson TB, Brudvig JJ, Likhite S, et al. (2023) Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease. Frontiers in Genetics. 14: 1118649
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