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Cyril Goizet

Showing results (81-90 of 173) with videos related to

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Brain : a Journal of Neurology|July 24, 2009
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 casesPierre Labauge, Laetitia Horzinski, Xavier Ayrignac, et al.
Blood|January 4, 2019
Disrupted filamin A/α<sub>IIb</sub>β<sub>3</sub> interaction induces macrothrombocytopenia by increasing RhoA activityAlessandro Donada, Nathalie Balayn, Dominika Sliwa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
American Journal of Human Genetics|April 9, 2008
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeSylvain Hanein, Elodie Martin, Amir Boukhris, 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.
Archives of Neurology|April 12, 2012
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegiaSophie Tezenas du Montcel, Perrine Charles, Cyril Goizet, 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.
American Journal of Human Genetics|April 16, 2024
CAG repeat mosaicism is gene specific in spinocerebellar ataxiasRadhia Kacher, François-Xavier Lejeune, Isabelle David, et al.
Pageof 18

Showing results (81-90 of 173) with videos related to

Sort By:
Pageof 18
Brain : a Journal of Neurology|July 24, 2009
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 casesPierre Labauge, Laetitia Horzinski, Xavier Ayrignac, et al.
Blood|January 4, 2019
Disrupted filamin A/α<sub>IIb</sub>β<sub>3</sub> interaction induces macrothrombocytopenia by increasing RhoA activityAlessandro Donada, Nathalie Balayn, Dominika Sliwa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2007
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT networkGaëtan Lesca, Carla Olivieri, Nelly Burnichon, et al.
American Journal of Human Genetics|April 9, 2008
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeSylvain Hanein, Elodie Martin, Amir Boukhris, 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.
Archives of Neurology|April 12, 2012
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegiaSophie Tezenas du Montcel, Perrine Charles, Cyril Goizet, 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.
American Journal of Human Genetics|April 16, 2024
CAG repeat mosaicism is gene specific in spinocerebellar ataxiasRadhia Kacher, François-Xavier Lejeune, Isabelle David, et al.
Pageof 18