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Steven S Scherer

Showing results (141-150 of 159) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
Brain : a Journal of Neurology|June 9, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, 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.
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.
Brain : a Journal of Neurology|February 14, 2015
Defects of mutant DNMT1 are linked to a spectrum of neurological disordersJonathan Baets, Xiaohui Duan, Yanhong Wu, et al.
Brain : a Journal of Neurology|June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severityDanique Beijer, Maike F Dohrn, Adriana Rebelo, 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.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Pageof 16

Showing results (141-150 of 159) with videos related to

Sort By:
Pageof 16
Medrxiv : the Preprint Server for Health Sciences|May 9, 2025
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of <i>PMP22</i> VariantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, et al.
Brain : a Journal of Neurology|June 9, 2025
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variantsKailee S Ward, Christopher P Ptak, Natalya Pashkova, 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.
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.
Brain : a Journal of Neurology|February 14, 2015
Defects of mutant DNMT1 are linked to a spectrum of neurological disordersJonathan Baets, Xiaohui Duan, Yanhong Wu, et al.
Brain : a Journal of Neurology|June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severityDanique Beijer, Maike F Dohrn, Adriana Rebelo, 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.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Pageof 16