Publications by authors named "Isabelle Coupry"

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Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.
Chloé Angelini, Claire Bar, Marie Pierre Baudier, Patricia Fergelot, Gwenaëlle Lancelot, Isabelle Coupry

Eur J Pain· January 2025

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Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
Sarah Courtois, Chloé Angelini, Christelle M Durand, Nivea Dias Amoedo, Armelle Courreges, Isabelle Coupry

Biochim Biophys Acta Mol Basis Dis· January 2024

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Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Chloé Angelini, Christelle Marie Durand, Patricia Fergelot, Julie Deforges, Anne Vital, Isabelle Coupry

Mov Disord· November 2023

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Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia.
Christelle M Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry

BMC Neurol· February 2022

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CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Christelle M Durand, Laura Dhers, Christelle Tesson, Alessandra Tessa, Laetitia Fouillen, Isabelle Coupry

Hum Mutat· January 2018

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Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Isabelle Coupry

Brain· January 2018

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Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αβ Activation.
Eliane Berrou, Frédéric Adam, Marilyne Lebret, Virginie Planche, Patricia Fergelot, Isabelle Coupry

Arterioscler Thromb Vasc Biol· June 2017

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Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Isabelle Coupry

Neurobiol Dis· February 2017

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Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.
Julie Lavie, Román Serrat, Nadège Bellance, Gilles Courtand, Jean-William Dupuy, Isabelle Coupry

Hum Mol Genet· February 2017

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Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, Marie-Pierre Cordier, Guilhem Solé, Isabelle Coupry

J Hum Genet· August 2016

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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Isabelle Coupry

Ann Neurol· December 2015

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Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
Dongling Dai, Philippa B Mills, Emma Footitt, Paul Gissen, Patricia McClean, Isabelle Coupry

J Inherit Metab Dis· September 2014

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Heterogeneity of platelet functional alterations in patients with filamin A mutations.
Eliane Berrou, Frédéric Adam, Marilyne Lebret, Patricia Fergelot, Alexandre Kauskot, Isabelle Coupry

Arterioscler Thromb Vasc Biol· January 2013

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Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
Patricia Fergelot, Isabelle Coupry, Caroline Rooryck, Julie Deforges, Elise Maurat

Eur J Med Genet· May 2012

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A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
Aurelie Carabalona, Shirley Beguin, Emilie Pallesi-Pocachard, Emmanuelle Buhler, Christophe Pellegrino, Isabelle Coupry

Hum Mol Genet· March 2012

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Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz-Marfak

Blood· November 2011

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REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Isabelle Coupry

Hum Mutat· October 2011

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Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Alice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, Cyril Goizet, Christel Thauvin-Robinet, Isabelle Coupry

Eur J Med Genet· June 2011

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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 chondrodysplasia.
Delphine Simon, Benoit Laloo, Malika Barillot, Thomas Barnetche, Camille Blanchard, Isabelle Coupry

Hum Mol Genet· May 2010

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Ophthalmological features associated with COL4A1 mutations.
Isabelle Coupry, Igor Sibon, Bruno Mortemousque, François Rouanet, Manuele Mine

Arch Ophthalmol· April 2010

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Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
Thomas Jouary, Cyril Goizet, Isabelle Coupry, Isabelle Redonnet-Vernhet, Thierry Levade

J Invest Dermatol· February 2008

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Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
Marianne Stef, Delphine Simon, Béatrice Mardirossian, Marie-Ange Delrue, Ingrid Burgelin, Isabelle Coupry

Eur J Hum Genet· August 2007

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COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
Igor Sibon, Isabelle Coupry, Patrice Menegon, Jean-Pierre Bouchet, Philippe Gorry

Ann Neurol· August 2007

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X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
Nicolas Chassaing, Virginie Siani, Dominique Carles, Anne Lise Delezoide, Eve Marie Alberti, Isabelle Coupry

Am J Med Genet A· August 2005

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Ancestral origins of the prion protein gene D178N mutation in the Basque Country.
Ana B Rodríguez-Martínez, Christian Barreau, Isabelle Coupry, Jordi Yagüe, Raquel Sánchez-Valle

Hum Genet· June 2005

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