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Showing results (71-80 of 93) with videos related to

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Biorxiv : the Preprint Server for Biology|April 8, 2024
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease miceKeigo Takahashi, Nicholas R Rensing, Elizabeth M Eultgen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2019
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomesJulie B Eisengart, Elizabeth I Pierpont, Alexander M Kaizer, et al.
Molecular Genetics and Metabolism|December 17, 2019
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot studyAgnes H Chen, Paul Harmatz, Igor Nestrasil, et al.
Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.
Molecular Genetics and Metabolism|May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 GangliosidosisPamela Kell, Sonali Mishra, Precilla D'Souza, et al.
JCI Insight|August 21, 2025
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease miceKeigo Takahashi, Nicholas R Rensing, Elizabeth M Eultgen, et al.
Brain : a Journal of Neurology|November 30, 2017
Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapyRebecca J Holley, Stuart M Ellison, Daniel Fil, et al.
Molecular Genetics and Metabolism|January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
Comparative Medicine|April 16, 2013
Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type ICharles H Vite, Igor Nestrasil, Anton Mlikotic, et al.
Experimental Neurology|July 30, 2015
Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis IJames M Provenzale, Igor Nestrasil, Steven Chen, et al.
Pageof 10

Showing results (71-80 of 93) with videos related to

Sort By:
Pageof 10
Biorxiv : the Preprint Server for Biology|April 8, 2024
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease miceKeigo Takahashi, Nicholas R Rensing, Elizabeth M Eultgen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 26, 2019
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomesJulie B Eisengart, Elizabeth I Pierpont, Alexander M Kaizer, et al.
Molecular Genetics and Metabolism|December 17, 2019
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot studyAgnes H Chen, Paul Harmatz, Igor Nestrasil, et al.
Molecular Genetics and Metabolism|April 5, 2026
Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challengesJoseph Muenzer, Mark Dant, Patricia I Dickson, et al.
Molecular Genetics and Metabolism|May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 GangliosidosisPamela Kell, Sonali Mishra, Precilla D'Souza, et al.
JCI Insight|August 21, 2025
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease miceKeigo Takahashi, Nicholas R Rensing, Elizabeth M Eultgen, et al.
Brain : a Journal of Neurology|November 30, 2017
Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapyRebecca J Holley, Stuart M Ellison, Daniel Fil, et al.
Molecular Genetics and Metabolism|January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
Comparative Medicine|April 16, 2013
Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type ICharles H Vite, Igor Nestrasil, Anton Mlikotic, et al.
Experimental Neurology|July 30, 2015
Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis IJames M Provenzale, Igor Nestrasil, Steven Chen, et al.
Pageof 10