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

Sarah Wiethoff

Showing results (31-40 of 62) with videos related to

Pageof 7
Sort By:
Neurology|June 19, 2015
ADCY5 mutations are another cause of benign hereditary choreaNiccolo E Mencacci, Roberto Erro, Sarah Wiethoff, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 24, 2020
CSF NFL in a Longitudinally Assessed PD Cohort: Age Effects and Cognitive TrajectoriesStefanie Lerche, Isabel Wurster, Benjamin Röben, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 17, 2021
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized DystoniaMiriama Ostrozovicova, Robert Jech, Dora Steel, et al.
Plos One|September 2, 2017
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early diseaseCharles Arber, Plamena R Angelova, Sarah Wiethoff, et al.
Scientific Reports|September 16, 2020
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-AdrenoleukodystrophyTim W Rattay, Maren Rautenberg, Anne S Söhn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
Journal of Neuromuscular Diseases|May 24, 2020
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional FamiliesYavuz Oktay, Serdal Güngör, Lena Zeltner, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
Microglia produce the amyloidogenic ABri peptide in familial British dementiaCharles Arber, Jackie M Casey, Samuel Crawford, et al.
Cell Reports|June 21, 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and HumansYubin Wang, Joshua Hersheson, Dulce Lopez, et al.
Pageof 7

Showing results (31-40 of 62) with videos related to

Sort By:
Pageof 7
Neurology|June 19, 2015
ADCY5 mutations are another cause of benign hereditary choreaNiccolo E Mencacci, Roberto Erro, Sarah Wiethoff, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 24, 2020
CSF NFL in a Longitudinally Assessed PD Cohort: Age Effects and Cognitive TrajectoriesStefanie Lerche, Isabel Wurster, Benjamin Röben, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 17, 2021
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized DystoniaMiriama Ostrozovicova, Robert Jech, Dora Steel, et al.
Plos One|September 2, 2017
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early diseaseCharles Arber, Plamena R Angelova, Sarah Wiethoff, et al.
Scientific Reports|September 16, 2020
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-AdrenoleukodystrophyTim W Rattay, Maren Rautenberg, Anne S Söhn, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 24, 2018
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathyEmer O'Connor, Jana Vandrovcova, Enrico Bugiardini, et al.
Human Mutation|November 12, 2017
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and functionVincenzo Salpietro, Stephanie Efthymiou, Andreea Manole, et al.
Journal of Neuromuscular Diseases|May 24, 2020
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional FamiliesYavuz Oktay, Serdal Güngör, Lena Zeltner, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2023
Microglia produce the amyloidogenic ABri peptide in familial British dementiaCharles Arber, Jackie M Casey, Samuel Crawford, et al.
Cell Reports|June 21, 2016
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and HumansYubin Wang, Joshua Hersheson, Dulce Lopez, et al.
Pageof 7