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Developmental Medicine and Child Neurology|June 22, 2018
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disordersVéronique Humbertclaude, Benjamin Krams, Erika Nogue, et al.Disease Models & Mechanisms|March 5, 2009
Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformationsGwénola Boulday, Anne Blécon, Nathalie Petit, et al.Genetic Epidemiology|May 16, 2019
Rare variant association testing for multicategory phenotypeOzvan Bocher, Gaëlle Marenne, Aude Saint Pierre, et al.Developmental Medicine and Child Neurology|May 23, 2019
Cognitive impairment in children with CACNA1A mutationsVeronique Humbertclaude, Florence Riant, Benjamin Krams, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|April 6, 2022
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological PhenotypeFrancesca Gubana, Christo Christov, Thibault Coste, et al.Journal of Neurology|January 7, 2014
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathyBence Gunda, Manuele Mine, Tibor Kovács, et al.Retina (Philadelphia, Pa.)|October 15, 2024
ASSESSMENT OF RETINAL ARTERIOLAR TORTUOSITY IN PATIENTS WITH COL4A1 OR COL4A2 MUTATIONSValérie Krivosic, Paul Goupillou, Frederic Buffon-Porcher, et al.European Journal of Human Genetics : EJHG|October 31, 2002
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous MalformationsFlorence Cavé-Riant, Christian Denier, Pierre Labauge, et al.Human Mutation|February 15, 2008
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brainCharles Fouillade, Hugues Chabriat, Florence Riant, et al.Headache|November 28, 2002
Familial cluster headache: a series of 186 index patientsMohammed El Amrani, Anne Ducros, Pauline Boulan, et al.Pageof 12