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Steven S Scherer

Showing results (131-140 of 159) with videos related to

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Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Muscle & Nerve|June 21, 2017
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth diseaseMatilde Laurá, Dishan Singh, Gita Ramdharry, et al.
Brain : a Journal of Neurology|June 25, 2024
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestationsGage P Kosmanopoulos, Jack K Donohue, Maya Hoke, et al.
European Journal of Neurology|October 19, 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophySilvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, et al.
Neurology|March 6, 2024
Disparities in Genetic Testing for Neurologic DisordersAaron Baldwin, Juliette Copeland, Meron Azage, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Nature Communications|December 19, 2018
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networksMelanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, et al.
Journal of Neurology|October 27, 2023
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impactsLaynie Dratch, Meron Azage, Aaron Baldwin, et al.
Brain : a Journal of Neurology|August 28, 2015
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ geneOranee Sanmaneechai, Shawna Feely, Steven S Scherer, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.
Pageof 16

Showing results (131-140 of 159) with videos related to

Sort By:
Pageof 16
Neurology. Genetics|May 24, 2019
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathyAlejandro Horga, Enrico Bugiardini, Andreea Manole, et al.
Muscle & Nerve|June 21, 2017
Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth diseaseMatilde Laurá, Dishan Singh, Gita Ramdharry, et al.
Brain : a Journal of Neurology|June 25, 2024
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestationsGage P Kosmanopoulos, Jack K Donohue, Maya Hoke, et al.
European Journal of Neurology|October 19, 2022
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophySilvia Cipriani, Marta Guerrero-Valero, Stefano Tozza, et al.
Neurology|March 6, 2024
Disparities in Genetic Testing for Neurologic DisordersAaron Baldwin, Juliette Copeland, Meron Azage, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Nature Communications|December 19, 2018
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networksMelanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, et al.
Journal of Neurology|October 27, 2023
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impactsLaynie Dratch, Meron Azage, Aaron Baldwin, et al.
Brain : a Journal of Neurology|August 28, 2015
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ geneOranee Sanmaneechai, Shawna Feely, Steven S Scherer, et al.
American Journal of Human Genetics|February 23, 2010
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMarina L Kennerson, Garth A Nicholson, Stephen G Kaler, et al.
Pageof 16