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Isabelle Coupry

Showing results (21-30 of 27) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Blood|October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromePaquita Nurden, Najet Debili, Isabelle Coupry, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Brain : a Journal of Neurology|December 12, 2017
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5Cecilia Marelli, Foudil Lamari, Dominique Rainteau, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Pageof 3

Showing results (21-30 of 27) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 27 results.
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Blood|October 1, 2011
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndromePaquita Nurden, Najet Debili, Isabelle Coupry, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Brain : a Journal of Neurology|December 12, 2017
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5Cecilia Marelli, Foudil Lamari, Dominique Rainteau, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Pageof 3