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

Matthis Synofzik

Showing results (211-220 of 511) with videos related to

Pageof 52
Sort By:
Journal of Neurology|February 5, 2021
Effects of Levodopa on quality of sleep and nocturnal movements in Parkinson's DiseaseEva Schaeffer, Thomas Vaterrodt, Laura Zaunbrecher, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 24, 2024
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX studyCeren Tunca, Eylül Ece İşlek Camadan, Natalia Smolina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjectsCornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, et al.
Annals of Clinical and Translational Neurology|February 16, 2022
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, et al.
Neuroimage. Clinical|December 11, 2019
Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI studyTommaso Ballarini, Franziska Albrecht, Karsten Mueller, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.
Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationMatthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, et al.
Brain : a Journal of Neurology|May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, David Pellerin, David Mengel, et al.
Pageof 52

Showing results (211-220 of 511) with videos related to

Sort By:
Pageof 52
Journal of Neurology|February 5, 2021
Effects of Levodopa on quality of sleep and nocturnal movements in Parkinson's DiseaseEva Schaeffer, Thomas Vaterrodt, Laura Zaunbrecher, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 24, 2024
Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX studyCeren Tunca, Eylül Ece İşlek Camadan, Natalia Smolina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjectsCornelis Blauwendraat, Carlo Wilke, Javier Simón-Sánchez, et al.
Annals of Clinical and Translational Neurology|February 16, 2022
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, et al.
Neuroimage. Clinical|December 11, 2019
Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI studyTommaso Ballarini, Franziska Albrecht, Karsten Mueller, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 30, 2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindredsPeter Bauer, Giovanni Stevanin, Christian Beetz, et al.
Brain Communications|September 14, 2023
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patientsCatherine Ashton, Elisabetta Indelicato, David Pellerin, et al.
Journal of Medical Genetics|January 29, 2013
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadismHussein Daoud, Martine Tétreault, William Gibson, et al.
Orphanet Journal of Rare Diseases|February 18, 2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutationMatthis Synofzik, Jennifer Müller vom Hagen, Tobias B Haack, et al.
Brain : a Journal of Neurology|May 11, 2023
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment responseCarlo Wilke, David Pellerin, David Mengel, et al.
Pageof 52