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Showing articles 0 to 7 of 7 Filter Applied: gene mutation (Click to remove) Unusual Variants of Alexander's Disease Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005 Direct Diagnosis of Myotonic Dystrophy with a Disease-Specific DNA Marker NEJM 328:471-475, Shelbourne,P.,et al, 1993 Muscle Stiffness, Gait Instability, and Liver Cirrhosis in Wilsons Disease Lancet 396:990, Kronlage, C.,et al, 2020 Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease NEJM 360:1729-1739, Hara,K.,et al, 2009 Alexander Disease, Ventricular Garlands and Abnormalities of the Medulla and Spinal Cord Neurol 66:494-498,468, van der Knaap,M.S.,et al, 2006 Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997 Molecular Genetics in Neurology Ann Neurol 34:757-773, Martin,J.B., 1993 Showing articles 0 to 7 of 7