Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Matt C Danzi

Showing results (61-70 of 81) with videos related to

Pageof 9
Sort By:
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, et al.
Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2025
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's DiseaseXiaosheng Zheng, Zhidong Cen, Xinhui Chen, 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.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Cerebellum (London, England)|December 22, 2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar AtaxiaM Leonor Bustamante, Marcelo Miranda, David Pellerin, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
Pageof 9

Showing results (61-70 of 81) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|April 23, 2026
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databasesBen Weisburd, Egor Dolzhenko, Mark F Bennett, et al.
Neurology. Genetics|February 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-<i>FGF14</i> AtaxiaShihan Chen, Catherine Ashton, Rawan Sakalla, et al.
Scientific Reports|June 15, 2023
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27BCéline Bonnet, David Pellerin, Virginie Roth, et al.
Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2025
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's DiseaseXiaosheng Zheng, Zhidong Cen, Xinhui Chen, 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.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Cerebellum (London, England)|December 22, 2025
Repeat Expansions in a Chilean Cohort with Adult-Onset Cerebellar AtaxiaM Leonor Bustamante, Marcelo Miranda, David Pellerin, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
Pageof 9