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 (261-270 of 324) with videos related to

Pageof 33
Sort By:
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
American Journal of Ophthalmology Case Reports|July 1, 2021
Retinal alterations in patients with Lafora diseaseHeather Heitkotter, Rachel E Linderman, Jenna A Cava, et al.
Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.
Epilepsy & Behavior : E&B|August 28, 2025
The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readinessMeredith I Williams, Katherine J Donohue, Pascual Sanz, et al.
The EMBO Journal|January 13, 2025
Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative diseaseSilvia Nitschke, Alina P Montalbano, Megan E Whiting, et al.
Gene Therapy|February 1, 2025
Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activityEmrah Gumusgoz, Sahba Kasiri, Ibrahim Youssef, et al.
Cell Reports|May 3, 2019
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative DiseasesMitchell A Sullivan, Silvia Nitschke, Evan P Skwara, et al.
Neurology|May 25, 2012
Phosphorylation prevents polyglucosan transport in Lafora diseaseJean-Marie Girard, Scellig S D Stone, Hannes Lohi, et al.
Biorxiv : the Preprint Server for Biology|September 25, 2023
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage BehaviorVaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Pageof 33

Showing results (261-270 of 324) with videos related to

Sort By:
Pageof 33
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
American Journal of Ophthalmology Case Reports|July 1, 2021
Retinal alterations in patients with Lafora diseaseHeather Heitkotter, Rachel E Linderman, Jenna A Cava, et al.
Neurology. Genetics|November 11, 2016
FHF1 (FGF12) epileptic encephalopathySameer Al-Mehmadi, Miranda Splitt, , et al.
Epilepsy & Behavior : E&B|August 28, 2025
The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readinessMeredith I Williams, Katherine J Donohue, Pascual Sanz, et al.
The EMBO Journal|January 13, 2025
Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative diseaseSilvia Nitschke, Alina P Montalbano, Megan E Whiting, et al.
Gene Therapy|February 1, 2025
Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activityEmrah Gumusgoz, Sahba Kasiri, Ibrahim Youssef, et al.
Cell Reports|May 3, 2019
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative DiseasesMitchell A Sullivan, Silvia Nitschke, Evan P Skwara, et al.
Neurology|May 25, 2012
Phosphorylation prevents polyglucosan transport in Lafora diseaseJean-Marie Girard, Scellig S D Stone, Hannes Lohi, et al.
Biorxiv : the Preprint Server for Biology|September 25, 2023
Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage BehaviorVaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 4, 2012
Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2Peter J Gianakopoulos, Yuzhi Zhang, Nela Pencea, et al.
Pageof 33