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

Peter Bauer

Showing results (511-520 of 585) with videos related to

Pageof 59
Sort By:
Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.
Movement Disorders Clinical Practice|September 9, 2025
Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease PatientsGiulia Di Rauso, Alessandro Ghibellini, Sara Grisanti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 24, 2025
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease PatientsChristian A Ganoza, Ana Westenberger, Jefri J Paul, et al.
Cerebellum (London, England)|June 25, 2011
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findingsHeike Jacobi, Till-Karsten Hauser, Paola Giunti, et al.
Movement Disorders Clinical Practice|October 27, 2018
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease ProgressionAlhassane Diallo, Heike Jacobi, Tanja Schmitz-Hübsch, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Pageof 59

Showing results (511-520 of 585) with videos related to

Sort By:
Pageof 59
Acta Neuropathologica|August 1, 2024
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagyJonasz J Weber, Leah Czisch, Priscila Pereira Sena, et al.
European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.
Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.
Movement Disorders Clinical Practice|September 9, 2025
Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease PatientsGiulia Di Rauso, Alessandro Ghibellini, Sara Grisanti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.
Brain : a Journal of Neurology|May 29, 2019
FAHN/SPG35: a narrow phenotypic spectrum across disease classificationsTim W Rattay, Tobias Lindig, Jonathan Baets, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 24, 2025
Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease PatientsChristian A Ganoza, Ana Westenberger, Jefri J Paul, et al.
Cerebellum (London, England)|June 25, 2011
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findingsHeike Jacobi, Till-Karsten Hauser, Paola Giunti, et al.
Movement Disorders Clinical Practice|October 27, 2018
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease ProgressionAlhassane Diallo, Heike Jacobi, Tanja Schmitz-Hübsch, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
Pageof 59