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

Pedro Mancias

Showing results (11-20 of 26) with videos related to

Pageof 3
Sort By:
Journal of Child Neurology|January 5, 2019
Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic ConditionsSara Wofford, Sarah Noblin, Jessica M Davis, et al.
EMBO Molecular Medicine|November 9, 2016
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALSSeiji Watanabe, Hristelina Ilieva, Hiromi Tamada, et al.
Muscle & Nerve|March 12, 2014
Sural sparing pattern discriminates Guillain-Barré syndrome from its mimicsAngelika Derksen, Christian Ritter, Parveen Athar, et al.
Mededportal : the Journal of Teaching and Learning Resources|March 26, 2021
Office of Medical Education: Opportunities for Trainees to Engage and Lead in Curricular Innovation and ReformDébora H Silva Díaz, Pooja Kothari, Renee L Williams, et al.
Annals of Neurology|February 26, 2003
CMT4A: identification of a Hispanic GDAP1 founder mutationCornelius F Boerkoel, Hiroshi Takashima, Masanori Nakagawa, et al.
Human Mutation|March 19, 2005
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradationGulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, et al.
Nature Genetics|March 9, 2004
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsKen Inoue, Mehrdad Khajavi, Tomoko Ohyama, et al.
Annals of Neurology|February 26, 2003
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathyMichael E Shy, Grace Hobson, Manisha Jain, et al.
Neurogenetics|August 25, 2007
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutationsKinga Szigeti, Wojciech Wiszniewski, Gulam Mustafa Saifi, et al.
Molecular Genetics and Metabolism|September 9, 2017
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiencyNicolai Preisler, Jonathan Cohen, Christoffer Rasmus Vissing, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Journal of Child Neurology|January 5, 2019
Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic ConditionsSara Wofford, Sarah Noblin, Jessica M Davis, et al.
EMBO Molecular Medicine|November 9, 2016
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALSSeiji Watanabe, Hristelina Ilieva, Hiromi Tamada, et al.
Muscle & Nerve|March 12, 2014
Sural sparing pattern discriminates Guillain-Barré syndrome from its mimicsAngelika Derksen, Christian Ritter, Parveen Athar, et al.
Mededportal : the Journal of Teaching and Learning Resources|March 26, 2021
Office of Medical Education: Opportunities for Trainees to Engage and Lead in Curricular Innovation and ReformDébora H Silva Díaz, Pooja Kothari, Renee L Williams, et al.
Annals of Neurology|February 26, 2003
CMT4A: identification of a Hispanic GDAP1 founder mutationCornelius F Boerkoel, Hiroshi Takashima, Masanori Nakagawa, et al.
Human Mutation|March 19, 2005
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradationGulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, et al.
Nature Genetics|March 9, 2004
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsKen Inoue, Mehrdad Khajavi, Tomoko Ohyama, et al.
Annals of Neurology|February 26, 2003
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathyMichael E Shy, Grace Hobson, Manisha Jain, et al.
Neurogenetics|August 25, 2007
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutationsKinga Szigeti, Wojciech Wiszniewski, Gulam Mustafa Saifi, et al.
Molecular Genetics and Metabolism|September 9, 2017
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiencyNicolai Preisler, Jonathan Cohen, Christoffer Rasmus Vissing, et al.
Pageof 3