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

Carly Siskind

Showing results (1-10 of 11) with videos related to

Pageof 2
Sort By:
Journal of Neurology, Neurosurgery, and Psychiatry|August 27, 2014
Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth diseaseSindhu Ramchandren, Michael Shy, Eva Feldman, et al.
Journal of Genetic Counseling|February 15, 2024
Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessmentAndrea Hanson-Kahn, Courtney Rowe-Teeter, Carly Siskind, et al.
Journal of the Neurological Sciences|February 6, 2009
Persistent CNS dysfunction in a boy with CMT1XCarly Siskind, Shawna M E Feely, Saunder Bernes, et al.
Brain Research|May 1, 2014
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutationsAlya R Raphael, Julien Couthouis, Sarada Sakamuri, et al.
Clinical Genetics|November 14, 2020
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegiaYe Cao, Melanie Manning, Kathleen Pope, et al.
Annals of Neurology|January 22, 2011
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyGladys Montenegro, Eric Powell, Jia Huang, et al.
Neurology|June 26, 2015
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2EChiara Pisciotta, Yunhong Bai, Kathryn M Brennan, et al.
Neuromuscular Disorders : NMD|March 6, 2014
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophyJulien Couthouis, Alya R Raphael, Carly Siskind, et al.
Annals of Neurology|March 9, 2018
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelinationBo Hu, Megan McCollum, Vignesh Ravi, et al.
Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Journal of Neurology, Neurosurgery, and Psychiatry|August 27, 2014
Defining disability: development and validation of a mobility-Disability Severity Index (mDSI) in Charcot-Marie-tooth diseaseSindhu Ramchandren, Michael Shy, Eva Feldman, et al.
Journal of Genetic Counseling|February 15, 2024
Proposed use of entrustable professional activities (EPAs) in genetic counseling for clinical training and assessmentAndrea Hanson-Kahn, Courtney Rowe-Teeter, Carly Siskind, et al.
Journal of the Neurological Sciences|February 6, 2009
Persistent CNS dysfunction in a boy with CMT1XCarly Siskind, Shawna M E Feely, Saunder Bernes, et al.
Brain Research|May 1, 2014
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutationsAlya R Raphael, Julien Couthouis, Sarada Sakamuri, et al.
Clinical Genetics|November 14, 2020
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegiaYe Cao, Melanie Manning, Kathleen Pope, et al.
Annals of Neurology|January 22, 2011
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth familyGladys Montenegro, Eric Powell, Jia Huang, et al.
Neurology|June 26, 2015
Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2EChiara Pisciotta, Yunhong Bai, Kathryn M Brennan, et al.
Neuromuscular Disorders : NMD|March 6, 2014
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophyJulien Couthouis, Alya R Raphael, Carly Siskind, et al.
Annals of Neurology|March 9, 2018
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelinationBo Hu, Megan McCollum, Vignesh Ravi, et al.
Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.
Pageof 2