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

Fabienne Clot

Showing results (21-30 of 40) with videos related to

Pageof 4
Sort By:
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
Neurobiology of Aging|October 20, 2018
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriersClémence Fournier, Mathieu Barbier, Agnès Camuzat, et al.
Neurobiology of Aging|July 15, 2018
Novel VCP mutations expand the mutational spectrum of frontotemporal dementiaDario Saracino, Fabienne Clot, Agnès Camuzat, et al.
Neurology. Genetics|June 10, 2016
Defining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, et al.
Parkinsonism & Related Disorders|September 22, 2020
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutationsFábio Carneiro, Dario Saracino, Vincent Huin, et al.
Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Brain : a Journal of Neurology|June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot, David Grabli, Cécile Cazeneuve, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 5, 2021
Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applicationsDario Saracino, Karim Dorgham, Agnès Camuzat, et al.
Brain Communications|June 30, 2025
Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriersMathieu Barbier, Thomas Gareau, Agnès Camuzat, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Movement Disorders : Official Journal of the Movement Disorder Society|March 5, 2009
The p.Asp216His TOR1A allele effect is not found in the French populationMélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, et al.
Neurobiology of Aging|October 20, 2018
Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriersClémence Fournier, Mathieu Barbier, Agnès Camuzat, et al.
Neurobiology of Aging|July 15, 2018
Novel VCP mutations expand the mutational spectrum of frontotemporal dementiaDario Saracino, Fabienne Clot, Agnès Camuzat, et al.
Neurology. Genetics|June 10, 2016
Defining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, et al.
Parkinsonism & Related Disorders|September 22, 2020
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutationsFábio Carneiro, Dario Saracino, Vincent Huin, et al.
Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Brain : a Journal of Neurology|June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot, David Grabli, Cécile Cazeneuve, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 5, 2021
Plasma NfL levels and longitudinal change rates in <i>C9orf72</i> and <i>GRN</i>-associated diseases: from tailored references to clinical applicationsDario Saracino, Karim Dorgham, Agnès Camuzat, et al.
Brain Communications|June 30, 2025
Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriersMathieu Barbier, Thomas Gareau, Agnès Camuzat, et al.
Pageof 4