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List of works by Florence Riant

A novel hereditary small vessel disease of the brain

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

scientific article published on 21 April 2017

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

scientific article published on March 2008

Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine ⬇️

scientific article published on August 23, 2010

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

scientific article published on 22 August 2018

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations

scientific article published on 14 January 2020

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome

scientific article published on 10 January 2020

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