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

James Fasham

Showing results (11-20 of 22) with videos related to

Pageof 3
Sort By:
Parkinsonism & Related Disorders|December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoformOlivia J Rickman, Claire G Salter, Adam C Gunning, et al.
American Journal of Medical Genetics. Part A|March 4, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from PalestineReham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, et al.
Annals of Neurology|February 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse ModelLettie E Rawlins, Philip H Iffland, John Page, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalitiesJoseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Parkinsonism & Related Disorders|December 1, 2020
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoformOlivia J Rickman, Claire G Salter, Adam C Gunning, et al.
American Journal of Medical Genetics. Part A|March 4, 2024
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from PalestineReham Khalaf-Nazzal, Imad Dweikat, Nishanka Ubeyratna, et al.
Annals of Neurology|February 16, 2026
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse ModelLettie E Rawlins, Philip H Iffland, John Page, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2022
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalitiesJoseph S Leslie, Rim Hjeij, Asaf Vivante, et al.
Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.
Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.
American Journal of Human Genetics|October 25, 2022
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorderReham Khalaf-Nazzal, James Fasham, Katherine A Inskeep, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiencyJames Fasham, Siying Lin, Promita Ghosh, et al.
Plos Genetics|August 30, 2018
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaLin Li, Xiaodong Jiao, Ilaria D'Atri, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Pageof 3