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David N Herrmann

Showing results (111-120 of 128) with videos related to

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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.
Annals of Neurology|October 7, 2022
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal StudyVera Fridman, Stefan Sillau, Jacob Bockhorst, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Neurology|November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related NeuropathyJordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.
Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Pageof 13

Showing results (111-120 of 128) with videos related to

Sort By:
Pageof 13
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.
Annals of Neurology|October 7, 2022
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal StudyVera Fridman, Stefan Sillau, Jacob Bockhorst, et al.
Brain : a Journal of Neurology|June 12, 2015
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyAlexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Brain : a Journal of Neurology|December 16, 2014
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2Alexander M Rossor, Emily C Oates, Hannah K Salter, et al.
Neurology|November 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related NeuropathyJordan Elliott Bontrager, Amy L White, Karlla W Brigatti, et al.
Annals of Neurology|February 2, 2019
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1AFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Journal of Neuromuscular Diseases|April 9, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association StudyFeifei Tao, Gary W Beecham, Adriana P Rebelo, et al.
Brain : a Journal of Neurology|June 7, 2023
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsChristopher J Record, Mariola Skorupinska, Matilde Laura, et al.
Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Pageof 13