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Archives of Ophthalmology (Chicago, Ill. : 1960)|April 14, 2010
Ophthalmological features associated with COL4A1 mutationsIsabelle Coupry, Igor Sibon, Bruno Mortemousque, et al.The Journal of Clinical Endocrinology and Metabolism|April 8, 2003
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadismBeate Karges, Wolfram Karges, Manuele Mine, et al.Molecular Genetics and Metabolism|November 1, 2005
First characterization of a large deletion of the PDHA 1 geneMichèle Brivet, Marie-Laure Moutard, Mokhtar Zater, et al.The Journal of Biological Chemistry|April 26, 2003
Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translationPetra Tryoen-Tóth, Sophie Richert, Bénédicte Sohm, et al.Annals of Neurology|January 31, 2003
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 geneRunu Dey, Manuele Mine, Isabelle Desguerre, 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.Ophthalmic Surgery, Lasers & Imaging Retina|June 22, 2018
Optical Coherence Tomography Angiography of Familial Retinal Arteriolar TortuosityAudrey Giocanti-Auregan, Alain Gaudric, Frédérique Buffon, et al.Neuropediatrics|August 31, 2012
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointersDavide Tonduti, Anna Pichiecchio, Roberta La Piana, et al.Neurology|November 24, 2012
A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13Dominique Hervé, Hugues Chabriat, Mélanie Rigal, et al.European Journal of Medical Genetics|October 14, 2018
Further refinement of COL4A1 and COL4A2 related cortical malformationsMara Cavallin, Manuele Mine, Marion Philbert, et al.Pageof 1