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

Isabelle Le Ber

Showing results (111-120 of 211) with videos related to

Pageof 22
Sort By:
Brain : a Journal of Neurology|June 18, 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.
Journal of Medical Genetics|June 26, 2010
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsStéphanie Millecamps, François Salachas, Cécile Cazeneuve, 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.
Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.
Brain : a Journal of Neurology|October 31, 2006
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementiaIsabelle Le Ber, Eric Guedj, Audrey Gabelle, et al.
Neurobiology of Disease|April 1, 2023
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progressionWalid Khrouf, Dario Saracino, Benoit Rucheton, et al.
Brain : a Journal of Neurology|November 15, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probandsGuillaume Cogan, Marion Houot, Julie Bogoin, et al.
Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, et al.
Journal of Alzheimer'S Disease : JAD|April 6, 2012
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkersDavid Wallon, Stéphane Rousseau, Anne Rovelet-Lecrux, et al.
Brain : a Journal of Neurology|February 5, 2008
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic studyIsabelle Le Ber, Agnès Camuzat, Didier Hannequin, et al.
Pageof 22

Showing results (111-120 of 211) with videos related to

Sort By:
Pageof 22
Brain : a Journal of Neurology|June 18, 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvementSylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, et al.
Journal of Medical Genetics|June 26, 2010
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsStéphanie Millecamps, François Salachas, Cécile Cazeneuve, 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.
Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.
Brain : a Journal of Neurology|October 31, 2006
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementiaIsabelle Le Ber, Eric Guedj, Audrey Gabelle, et al.
Neurobiology of Disease|April 1, 2023
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progressionWalid Khrouf, Dario Saracino, Benoit Rucheton, et al.
Brain : a Journal of Neurology|November 15, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probandsGuillaume Cogan, Marion Houot, Julie Bogoin, et al.
Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, et al.
Journal of Alzheimer'S Disease : JAD|April 6, 2012
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkersDavid Wallon, Stéphane Rousseau, Anne Rovelet-Lecrux, et al.
Brain : a Journal of Neurology|February 5, 2008
Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic studyIsabelle Le Ber, Agnès Camuzat, Didier Hannequin, et al.
Pageof 22