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

Ebba Lohmann

Showing results (61-70 of 77) with videos related to

Pageof 8
Sort By:
Frontiers in Neurology|August 28, 2020
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center CohortSuzanne Lesage, Marion Houot, Graziella Mangone, et al.
Human Molecular Genetics|November 19, 2010
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European populationMohamad Saad, Suzanne Lesage, Aude Saint-Pierre, et al.
Neurobiology of Aging|December 31, 2022
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patientsMarco Foddis, Sonja Blumenau, Manuel Holtgrewe, et al.
Annals of Neurology|October 13, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter StudySuzanne Lesage, Ariane Lunati, Marion Houot, et al.
Scientific Reports|March 17, 2021
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J miceClemens Messerschmidt, Marco Foddis, Sonja Blumenau, et al.
Science Translational Medicine|July 4, 2014
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosisGernot Kleinberger, Yoshinori Yamanishi, Marc Suárez-Calvet, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia GenesMirja Thomsen, Katrin Marth, Sebastian Loens, et al.
American Journal of Human Genetics|May 19, 2015
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaNiccolo E Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
American Journal of Human Genetics|March 5, 2016
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagySuzanne Lesage, Valérie Drouet, Elisa Majounie, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
Frontiers in Neurology|August 28, 2020
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center CohortSuzanne Lesage, Marion Houot, Graziella Mangone, et al.
Human Molecular Genetics|November 19, 2010
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European populationMohamad Saad, Suzanne Lesage, Aude Saint-Pierre, et al.
Neurobiology of Aging|December 31, 2022
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patientsMarco Foddis, Sonja Blumenau, Manuel Holtgrewe, et al.
Annals of Neurology|October 13, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter StudySuzanne Lesage, Ariane Lunati, Marion Houot, et al.
Scientific Reports|March 17, 2021
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J miceClemens Messerschmidt, Marco Foddis, Sonja Blumenau, et al.
Science Translational Medicine|July 4, 2014
TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosisGernot Kleinberger, Yoshinori Yamanishi, Marc Suárez-Calvet, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 12, 2024
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia GenesMirja Thomsen, Katrin Marth, Sebastian Loens, et al.
American Journal of Human Genetics|May 19, 2015
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaNiccolo E Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
American Journal of Human Genetics|March 5, 2016
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagySuzanne Lesage, Valérie Drouet, Elisa Majounie, et al.
Pageof 8