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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2022
Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, et al.
International Journal of Molecular Sciences|January 8, 2020
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1Kyle B Martin, Ian M Williams, Celine V Cluzeau, et al.
Molecular Genetics and Metabolism|November 19, 2025
Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1Forbes D Porter, Derek M Alexander, Orsolya K Albert, et al.
Health Policy and Planning|October 27, 2010
Economic evaluation of a combined microfinance and gender training intervention for the prevention of intimate partner violence in rural South AfricaStephen Jan, Giulia Ferrari, Charlotte H Watts, et al.
Human Molecular Genetics|February 2, 2002
A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx miceJohn D Porter, Sangeeta Khanna, Henry J Kaminski, et al.
American Journal of Medical Genetics|September 20, 2000
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotypingP A Krakowiak, N A Nwokoro, C A Wassif, et al.
Diseases (Basel, Switzerland)|September 22, 2017
Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1Meghann W Lau, Ryan W Lee, Robin Miyamoto, et al.
Pediatric Neurology|February 13, 2018
Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-CyclodextrinElizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, et al.
The Review of Scientific Instruments|November 7, 2012
A two photon absorption laser induced fluorescence diagnostic for fusion plasmasR M Magee, M E Galante, D McCarren, et al.
Orphanet Journal of Rare Diseases|December 2, 2016
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseSteven U Walkley, Cristin D Davidson, Jonathan Jacoby, et al.
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