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Isabelle Coupry

Showing results (11-20 of 27) with videos related to

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Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
Human Molecular Genetics|December 24, 2016
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylationJulie Lavie, Román Serrat, Nadège Bellance, et al.
Human Molecular Genetics|November 15, 2011
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-AAurelie Carabalona, Shirley Beguin, Emilie Pallesi-Pocachard, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 28, 2023
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)Sarah Courtois, Chloé Angelini, Christelle M Durand, et al.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Human Genetics|April 5, 2005
Ancestral origins of the prion protein gene D178N mutation in the Basque CountryAna B Rodríguez-Martínez, Christian Barreau, Isabelle Coupry, et al.
Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.
Journal of Inherited Metabolic Disease|March 25, 2014
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acidDongling Dai, Philippa B Mills, Emma Footitt, et al.
European Journal of Pain (London, England)|August 5, 2024
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studiesChloé Angelini, Claire Bar, Marie Pierre Baudier, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Human Molecular Genetics|February 26, 2010
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasiaDelphine Simon, Benoit Laloo, Malika Barillot, et al.
European Journal of Medical Genetics|February 28, 2012
Atypical male and female presentations of FLNA-related periventricular nodular heterotopiaPatricia Fergelot, Isabelle Coupry, Caroline Rooryck, et al.
Human Molecular Genetics|December 24, 2016
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylationJulie Lavie, Román Serrat, Nadège Bellance, et al.
Human Molecular Genetics|November 15, 2011
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-AAurelie Carabalona, Shirley Beguin, Emilie Pallesi-Pocachard, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|August 28, 2023
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA)Sarah Courtois, Chloé Angelini, Christelle M Durand, et al.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Human Genetics|April 5, 2005
Ancestral origins of the prion protein gene D178N mutation in the Basque CountryAna B Rodríguez-Martínez, Christian Barreau, Isabelle Coupry, et al.
Neurobiology of Disease|November 29, 2016
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARCAngèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, et al.
Journal of Inherited Metabolic Disease|March 25, 2014
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acidDongling Dai, Philippa B Mills, Emma Footitt, et al.
European Journal of Pain (London, England)|August 5, 2024
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studiesChloé Angelini, Claire Bar, Marie Pierre Baudier, et al.
Pageof 3