Influence of Nucleoshuttling of the ATM Protein in the Healthy Tissues Response to Radiation Therapy: Toward a Molecular Classification of Human Radiosensitivity

Adeline Granzotto, Mohamed Amine Benadjaoud, Guillaume Vogin, +64

International Journal of Radiation Oncology*Biology*Physics

Atm ProteinRadiation TherapyRadiobiologyMedicineRadionuclide Therapy +10

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

Stéphanie Guey, Markus Kraemer, Dominique Hervé, +9

European Journal of Human Genetics

Ring-finger DomainGeneticsGenetic EpidemiologyPathologyRare Rnf213 Variants +2

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

Dominique Hervé, Anne Philippi, Reda Belbouab, +22

The American Journal of Human Genetics

Molecular PharmacologyMolecular NeuroscienceMolecular PhysiologyBiochemistryReactive Nitrogen Specie +6

Prevalence and characteristics of migraine in CADASIL

Stéphanie Guey, Jérôme Mawet, Dominique Hervé, +7

Cephalalgia

Cluster HeadacheMigraine SymptomsPsychiatryCardiovascular DiseaseObjective Migraine +12

Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood

Laure Bottin, Sabine Prud’hon, Stéphanie Guey, +4

Multiple Sclerosis Journal

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Amélie Pinard, Stéphanie Guey, Dongchuan Guo, +15

Genetics in Medicine

Vascular DiseaseGeneticsPathologyDisease Gene IdentificationMedicine +1

Main features of COL4A1-COL4A2 related cerebral microangiopathies

Stéphanie Guey, Dominique Hervé

Cerebral Circulation - Cognition and Behavior

Hereditary Cerebral Small Vessel Diseases and Stroke: A Guide for Diagnosis and Management

Stéphanie Guey, Saskia A.J. Lesnik Oberstein, Elisabeth Tournier‐Lasserve, +1

Stroke

Neurological DisorderVascular MalformationCerebrovascular DiseaseNeurovascular DiseaseThrombosis +16

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

Stéphanie Guey, Lou Grangeon, Françis Brunelle, +12

Journal of Medical Genetics

Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy

Lou Grangeon, Stéphanie Guey, Jan Claudius Schwitalla, +10

Stroke

Vascular DiseaseGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +23