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

Yesim Parman

Showing results (41-50 of 61) with videos related to

Pageof 7
Sort By:
Nature Genetics|April 6, 2004
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Züchner, Irina V Mersiyanova, Maria Muglia, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
European Journal of Neurology|February 13, 2025
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
JAMA|September 28, 2023
Eplontersen for Hereditary Transthyretin Amyloidosis With PolyneuropathyTeresa Coelho, Wilson Marques, Noel R Dasgupta, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
The New England Journal of Medicine|July 5, 2018
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin AmyloidosisDavid Adams, Alejandra Gonzalez-Duarte, William D O'Riordan, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
Nature Genetics|April 6, 2004
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AStephan Züchner, Irina V Mersiyanova, Maria Muglia, et al.
Nature Reviews. Disease Primers|June 17, 2022
Genetic pain loss disordersAnnette Lischka, Petra Lassuthova, Arman Çakar, et al.
Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.
European Journal of Neurology|February 13, 2025
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, et al.
American Journal of Human Genetics|October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek, Carsten Bergmann, Claudia Stendel, et al.
Brain : a Journal of Neurology|August 16, 2011
Genetic spectrum of hereditary neuropathies with onset in the first year of lifeJonathan Baets, Tine Deconinck, Els De Vriendt, et al.
Brain : a Journal of Neurology|June 22, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disabilityEmil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, et al.
JAMA|September 28, 2023
Eplontersen for Hereditary Transthyretin Amyloidosis With PolyneuropathyTeresa Coelho, Wilson Marques, Noel R Dasgupta, et al.
Cell Reports|August 11, 2015
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyClaudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, et al.
The New England Journal of Medicine|July 5, 2018
Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin AmyloidosisDavid Adams, Alejandra Gonzalez-Duarte, William D O'Riordan, et al.
Pageof 7