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David N Herrmann

Showing results (121-130 of 128) with videos related to

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Annals of Neurology|May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Annals of Neurology|June 9, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral NeuropathyLuiza L P Ramos, Jevin M Parmar, Robin Wijngaard, et al.
Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Pageof 13

Showing results (121-130 of 128) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 128 results.
Annals of Neurology|May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.
Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Annals of Neurology|June 9, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral NeuropathyLuiza L P Ramos, Jevin M Parmar, Robin Wijngaard, et al.
Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.
Pageof 13