Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ellen Sidransky

Showing results (71-80 of 166) with videos related to

Pageof 17
Sort By:
The Journal of Pediatrics|September 13, 2003
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3Ozlem Goker-Alpan, Raphael Schiffmann, Joseph K Park, et al.
Journal of Human Genetics|March 17, 2004
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher diseaseMary E LaMarca, Mona Goldstein, Nahid Tayebi, et al.
Neurobiology of Disease|January 15, 2005
Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseDori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, et al.
Neurobiology of Disease|November 1, 2019
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's diseaseElma Aflaki, Barbara K Stubblefield, Ryan P McGlinchey, et al.
Molecular Genetics and Metabolism|December 6, 2016
Gaucher disease: Progress and ongoing challengesPramod K Mistry, Grisel Lopez, Raphael Schiffmann, et al.
Current Chemical Genomics|February 19, 2011
High throughput screening for inhibitors of alpha-galactosidaseOmid Motabar, Ke Liu, Noel Southall, et al.
Disease Models & Mechanisms|June 9, 2017
Induced pluripotent stem cell models of lysosomal storage disordersDaniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, et al.
Molecular Genetics and Metabolism|July 12, 2011
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutationsJae Hyuk Choi, Barbara Stubblefield, Mark R Cookson, et al.
The Journal of Biological Chemistry|May 17, 2019
C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's diseaseRyan P McGlinchey, Shannon M Lacy, Katherine E Huffer, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 29, 2025
The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated ParkinsonismMark J Henderson, Tiffany C Chen, Logan M Glasstetter, et al.
Pageof 17

Showing results (71-80 of 166) with videos related to

Sort By:
Pageof 17
The Journal of Pediatrics|September 13, 2003
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3Ozlem Goker-Alpan, Raphael Schiffmann, Joseph K Park, et al.
Journal of Human Genetics|March 17, 2004
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher diseaseMary E LaMarca, Mona Goldstein, Nahid Tayebi, et al.
Neurobiology of Disease|January 15, 2005
Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseDori Pelled, Selena Trajkovic-Bodennec, Emyr Lloyd-Evans, et al.
Neurobiology of Disease|November 1, 2019
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's diseaseElma Aflaki, Barbara K Stubblefield, Ryan P McGlinchey, et al.
Molecular Genetics and Metabolism|December 6, 2016
Gaucher disease: Progress and ongoing challengesPramod K Mistry, Grisel Lopez, Raphael Schiffmann, et al.
Current Chemical Genomics|February 19, 2011
High throughput screening for inhibitors of alpha-galactosidaseOmid Motabar, Ke Liu, Noel Southall, et al.
Disease Models & Mechanisms|June 9, 2017
Induced pluripotent stem cell models of lysosomal storage disordersDaniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, et al.
Molecular Genetics and Metabolism|July 12, 2011
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutationsJae Hyuk Choi, Barbara Stubblefield, Mark R Cookson, et al.
The Journal of Biological Chemistry|May 17, 2019
C-terminal α-synuclein truncations are linked to cysteine cathepsin activity in Parkinson's diseaseRyan P McGlinchey, Shannon M Lacy, Katherine E Huffer, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 29, 2025
The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated ParkinsonismMark J Henderson, Tiffany C Chen, Logan M Glasstetter, et al.
Pageof 17