Journal article

Mutation of SCARB2 in a Patient With Progressive Myoclonus Epilepsy and Demyelinating Peripheral Neuropathy

Leanne M Dibbens, Ioannis Karakis, Marta A Bayly, Daniel J Costello, Andrew J Cole, Samuel F Berkovic

Archives of Neurology | AMER MEDICAL ASSOC | Published : 2011

DOI: 10.1001/archneurol.2011.120

University of Melbourne Researchers

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Keywords

Science & Technology
Humans
Myoclonic Epilepsies, Progressive
Neurosciences & Neurology
Adult
Pedigree
Deafness
Genetic Predisposition To Disease
Clinical Neurology
Lysosome-Associated Membrane Glycoproteins
Demyelinating Diseases
Life Sciences & Biomedicine
Receptors, Scavenger
Male
Renal Failure Syndrome
Mutation
Peripheral Nervous System Diseases
Prognosis
Mice