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Marc Sturm

Showing results (91-100 of 106) with videos related to

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Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinaseEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
Frontiers in Neurology|July 14, 2020
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease ResearchRoopa Rajan, K P Divya, Rukmini Mridula Kandadai, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
The Lancet. Neurology|April 13, 2024
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analysesEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Pageof 11

Showing results (91-100 of 106) with videos related to

Sort By:
Pageof 11
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
A pathogenic variant in RAB32 causes autosomal dominant Parkinson's disease and activates LRRK2 kinaseEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
Frontiers in Neurology|July 14, 2020
Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease ResearchRoopa Rajan, K P Divya, Rukmini Mridula Kandadai, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
The Lancet. Neurology|April 13, 2024
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analysesEmil K Gustavsson, Jordan Follett, Joanne Trinh, et al.
American Journal of Human Genetics|January 3, 2025
EEFSEC deficiency: A selenopathy with early-onset neurodegenerationLucia Laugwitz, Rebecca Buchert, Patricio Olguín, et al.
American Journal of Human Genetics|July 25, 2020
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic ParaplegiaRalf A Husain, Mona Grimmel, Matias Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 31, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.
Pageof 11