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 (21-30 of 62) with videos related to

Pageof 7
Sort By:
Journal of Neurology, Neurosurgery, and Psychiatry|January 26, 2018
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onsetSarah Wiethoff, Emer O'Connor, Nourelhoda A Haridy, et al.
Movement Disorders Clinical Practice|July 10, 2018
Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and TicsBettina Balint, Sarah Wiethoff, Davide Martino, et al.
Cerebellum (London, England)|March 21, 2016
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 GeneSarah Wiethoff, Conceição Bettencourt, Reema Paudel, et al.
Journal of Neurogenetics|July 8, 2024
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic causeAnnabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 31, 2014
Assessment of functional and morphometric endpoints in patients with non-arteritic anterior ischemic optic neuropathy (NAION)Christoph Kernstock, Flemming Beisse, Sarah Wiethoff, et al.
Journal of the Neurological Sciences|December 30, 2019
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegenerationStephanie Efthymiou, Yamna Kriouile, Vincenzo Salpietro, et al.
Journal of the Neurological Sciences|February 18, 2014
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysisSarah Wiethoff, Georgia Xiromerisiou, Conceição Bettencourt, et al.
Frontiers in Genetics|September 5, 2024
Case report: Clinical, genetic and immunological characterization of a novel <i>XK</i> variant in a patient with McLeod syndromeChristine Anna Dambietz, Andrea Doescher, Michael Heming, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|August 11, 2012
Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophyM Dominik Fischer, Matthis Synofzik, Christoph Kernstock, et al.
Neurobiology of Disease|December 29, 2015
Gene co-expression networks shed light into diseases of brain iron accumulationConceição Bettencourt, Paola Forabosco, Sarah Wiethoff, et al.
Pageof 7

Showing results (21-30 of 62) with videos related to

Sort By:
Pageof 7
Journal of Neurology, Neurosurgery, and Psychiatry|January 26, 2018
Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onsetSarah Wiethoff, Emer O'Connor, Nourelhoda A Haridy, et al.
Movement Disorders Clinical Practice|July 10, 2018
Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and TicsBettina Balint, Sarah Wiethoff, Davide Martino, et al.
Cerebellum (London, England)|March 21, 2016
Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 GeneSarah Wiethoff, Conceição Bettencourt, Reema Paudel, et al.
Journal of Neurogenetics|July 8, 2024
SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic causeAnnabelle Arlt, Esra Akova-Öztürk, Anja Schirmacher, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|January 31, 2014
Assessment of functional and morphometric endpoints in patients with non-arteritic anterior ischemic optic neuropathy (NAION)Christoph Kernstock, Flemming Beisse, Sarah Wiethoff, et al.
Journal of the Neurological Sciences|December 30, 2019
A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegenerationStephanie Efthymiou, Yamna Kriouile, Vincenzo Salpietro, et al.
Journal of the Neurological Sciences|February 18, 2014
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysisSarah Wiethoff, Georgia Xiromerisiou, Conceição Bettencourt, et al.
Frontiers in Genetics|September 5, 2024
Case report: Clinical, genetic and immunological characterization of a novel <i>XK</i> variant in a patient with McLeod syndromeChristine Anna Dambietz, Andrea Doescher, Michael Heming, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|August 11, 2012
Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophyM Dominik Fischer, Matthis Synofzik, Christoph Kernstock, et al.
Neurobiology of Disease|December 29, 2015
Gene co-expression networks shed light into diseases of brain iron accumulationConceição Bettencourt, Paola Forabosco, Sarah Wiethoff, et al.
Pageof 7