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Matthew B Harms

Showing results (41-50 of 68) with videos related to

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European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Human Molecular Genetics|May 17, 2014
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisJillian G Buchan, David M Alvarado, Gabe E Haller, et al.
Elife|November 19, 2021
Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disordersJonathan Gilley, Oscar Jackson, Menelaos Pipis, et al.
Neuron|December 6, 2015
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTDJacqueline G O'Rourke, Laurent Bogdanik, A K M G Muhammad, et al.
Molecular Psychiatry|November 20, 2021
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disordersAnna Alkelai, Lior Greenbaum, Anna R Docherty, et al.
Cell Reports|August 15, 2025
Alpha-synuclein abundance and localization are regulated by the RNA-binding protein PUMILIO1Maximilian Cabaj, Pietro G Mazzara, Zachary A Gaertner, et al.
Muscle & Nerve|December 19, 2020
Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trialMichael D Weiss, Eric A Macklin, Courtney E McIlduff, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 31, 2013
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degenerationClotilde Lagier-Tourenne, Michael Baughn, Frank Rigo, 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 7

Showing results (41-50 of 68) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Human Molecular Genetics|May 17, 2014
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosisJillian G Buchan, David M Alvarado, Gabe E Haller, et al.
Elife|November 19, 2021
Enrichment of <i>SARM1</i> alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disordersJonathan Gilley, Oscar Jackson, Menelaos Pipis, et al.
Neuron|December 6, 2015
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTDJacqueline G O'Rourke, Laurent Bogdanik, A K M G Muhammad, et al.
Molecular Psychiatry|November 20, 2021
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disordersAnna Alkelai, Lior Greenbaum, Anna R Docherty, et al.
Cell Reports|August 15, 2025
Alpha-synuclein abundance and localization are regulated by the RNA-binding protein PUMILIO1Maximilian Cabaj, Pietro G Mazzara, Zachary A Gaertner, et al.
Muscle & Nerve|December 19, 2020
Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trialMichael D Weiss, Eric A Macklin, Courtney E McIlduff, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 31, 2013
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degenerationClotilde Lagier-Tourenne, Michael Baughn, Frank Rigo, 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 7