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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2025
COL4A1 and COL4A2-related disorders: Clinical features, diagnostic guidelines, and managementDiana Tambala, Rachel Vassar, John Snow, et al.Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism|April 30, 2015
APOE ɛ2 is associated with white matter hyperintensity volume in CADASILBenno Gesierich, Christian Opherk, Jonathan Rosand, et al.Journal of Alzheimer'S Disease : JAD|December 21, 2012
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testingIsabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, et al.Alzheimer'S Research & Therapy|May 11, 2023
Phenotype and imaging features associated with APP duplicationsLou Grangeon, Camille Charbonnier, Aline Zarea, et al.Neurology|October 31, 2014
Familial occurrence and heritable connective tissue disorders in cervical artery dissectionStéphanie Debette, Barbara Goeggel Simonetti, Sabrina Schilling, et al.American Journal of Human Genetics|March 30, 2023
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhageMauro Lecca, Davut Pehlivan, Damià Heine Suñer, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 4, 2019
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary resultsAnna Bersano, Gloria Bedini, Sara Nava, et al.Brain : a Journal of Neurology|December 21, 2014
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patientsXavier Ayrignac, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, et al.Pageof 12