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

Neurology. Genetics

Showing results (531-540 of 842) with videos related to

Pageof 85
Sort By:
Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Neurology. Genetics|April 6, 2026
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9John Vissing, Tahseen Mozaffar, Nicholas E Johnson, et al.
Neurology. Genetics|March 25, 2026
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1Maria Gabriela Tanase, Lina Djilani, Remy Lamontagne, et al.
Neurology. Genetics|March 27, 2026
Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X SyndromeAdam Van Steenbergen, Manpreet Kaur, Keneizha Rubanarayana, et al.
Neurology. Genetics|June 3, 2026
<i>HSD17B4</i>-Related Disorder: Defining the Phenotype in Adult-Onset PatientsGrazia Maria Igea Falcone, Alessandra Tessa, Cristiano Rizzo, et al.
Neurology. Genetics|May 21, 2026
Ataxia With Vitamin E Deficiency Syndrome and a Novel <i>TTPA</i> Variant: A Paired Case ReportGiacomo Baso, Francesca Magri, Monica Sciacco, et al.
Neurology. Genetics|May 1, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency DisorderQuentin Sabbagh, Felipe Villa Tobón, Zahra Kazemi, et al.
Neurology. Genetics|May 8, 2026
Stratification of Phenotypes in Childhood-Onset <i>COL4A1/COL4A2</i>-Related Disorders Based on Age of PresentationGiulia S Porcari, Rudmila N Rashid, Caitlyn A Mulvihill, et al.
Neurology. Genetics|April 27, 2026
Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic ManifestationsJee Min Kim, Yoon Sunwoo, Haeryung Kim, et al.
Neurology. Genetics|April 16, 2026
Parkinson Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data ValidationSamantha Hong, Mathew J Koretsky, Jens Lichtenberg, et al.
Pageof 85

Showing results (531-540 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.
Neurology. Genetics|April 6, 2026
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9John Vissing, Tahseen Mozaffar, Nicholas E Johnson, et al.
Neurology. Genetics|March 25, 2026
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1Maria Gabriela Tanase, Lina Djilani, Remy Lamontagne, et al.
Neurology. Genetics|March 27, 2026
Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X SyndromeAdam Van Steenbergen, Manpreet Kaur, Keneizha Rubanarayana, et al.
Neurology. Genetics|June 3, 2026
<i>HSD17B4</i>-Related Disorder: Defining the Phenotype in Adult-Onset PatientsGrazia Maria Igea Falcone, Alessandra Tessa, Cristiano Rizzo, et al.
Neurology. Genetics|May 21, 2026
Ataxia With Vitamin E Deficiency Syndrome and a Novel <i>TTPA</i> Variant: A Paired Case ReportGiacomo Baso, Francesca Magri, Monica Sciacco, et al.
Neurology. Genetics|May 1, 2026
Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency DisorderQuentin Sabbagh, Felipe Villa Tobón, Zahra Kazemi, et al.
Neurology. Genetics|May 8, 2026
Stratification of Phenotypes in Childhood-Onset <i>COL4A1/COL4A2</i>-Related Disorders Based on Age of PresentationGiulia S Porcari, Rudmila N Rashid, Caitlyn A Mulvihill, et al.
Neurology. Genetics|April 27, 2026
Expanding the Clinical Spectrum of Arboleda-Tham Syndrome: Neuroimaging Findings and Hematologic ManifestationsJee Min Kim, Yoon Sunwoo, Haeryung Kim, et al.
Neurology. Genetics|April 16, 2026
Parkinson Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data ValidationSamantha Hong, Mathew J Koretsky, Jens Lichtenberg, et al.
Pageof 85