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

A Minassian

Showing results (231-240 of 324) with videos related to

Pageof 33
Sort By:
Neurology|August 28, 2002
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagyB A Minassian, R Aiyar, S Alic, et al.
Science Advances|December 14, 2020
Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapySeiji N Sugiman-Marangos, Greg L Beilhartz, Xiaochu Zhao, et al.
Brain Pathology (Zurich, Switzerland)|September 12, 2009
22-year-old girl with status epilepticus and progressive neurological symptomsPasquale Striano, Cameron A Ackerley, Mariarosaria Cervasio, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
<i>MYORG</i> is associated with recessive primary familial brain calcificationDavid Arkadir, Alexander Lossos, Dolev Rahat, et al.
Neurology|March 29, 2007
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfallsH Lohi, J Turnbull, X C Zhao, et al.
Gene Therapy|December 22, 2023
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsyEmrah Gumusgoz, Sahba Kasiri, Mayank Verma, et al.
The Journal of Biological Chemistry|December 5, 2020
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in miceSilvia Nitschke, Erin E Chown, Xiaochu Zhao, et al.
Annals of Neurology|June 4, 2025
Autosomal Recessive Cerebellar Ataxias: Translating Genes to TherapiesBrent L Fogel, Thomas Klopstock, David R Lynch, et al.
Brain : a Journal of Neurology|February 10, 2009
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisMaria Kousi, Eija Siintola, Lenka Dvorakova, et al.
American Journal of Human Genetics|June 15, 2007
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterEija Siintola, Meral Topcu, Nina Aula, et al.
Pageof 33

Showing results (231-240 of 324) with videos related to

Sort By:
Pageof 33
Neurology|August 28, 2002
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagyB A Minassian, R Aiyar, S Alic, et al.
Science Advances|December 14, 2020
Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapySeiji N Sugiman-Marangos, Greg L Beilhartz, Xiaochu Zhao, et al.
Brain Pathology (Zurich, Switzerland)|September 12, 2009
22-year-old girl with status epilepticus and progressive neurological symptomsPasquale Striano, Cameron A Ackerley, Mariarosaria Cervasio, et al.
Annals of Clinical and Translational Neurology|January 19, 2019
<i>MYORG</i> is associated with recessive primary familial brain calcificationDavid Arkadir, Alexander Lossos, Dolev Rahat, et al.
Neurology|March 29, 2007
Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfallsH Lohi, J Turnbull, X C Zhao, et al.
Gene Therapy|December 22, 2023
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsyEmrah Gumusgoz, Sahba Kasiri, Mayank Verma, et al.
The Journal of Biological Chemistry|December 5, 2020
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in miceSilvia Nitschke, Erin E Chown, Xiaochu Zhao, et al.
Annals of Neurology|June 4, 2025
Autosomal Recessive Cerebellar Ataxias: Translating Genes to TherapiesBrent L Fogel, Thomas Klopstock, David R Lynch, et al.
Brain : a Journal of Neurology|February 10, 2009
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisMaria Kousi, Eija Siintola, Lenka Dvorakova, et al.
American Journal of Human Genetics|June 15, 2007
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterEija Siintola, Meral Topcu, Nina Aula, et al.
Pageof 33