Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novelSCARB2mutations

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

(2012) Claudia Perandones et al.   MOVEMENT DISORDERS

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

(2011) Leanne M. Dibbens et al.   ARCHIVES OF NEUROLOGY

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

(2011) Franziska Hopfner et al.   BMC Neurology

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused bySCARB2mutations

(2011) Guido Rubboli et al.   EPILEPSIA

Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: Clinical report of two siblings

(2011) João Chaves et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

(2010) Luis Felipe Mendonça Siqueira   JOURNAL OF NEUROLOGY

SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure

(2009) L.M. Dibbens et al.   ANNALS OF NEUROLOGY

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

(2009) Nivetha Ramachandran et al.   EPILEPSIA

Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

(2008) Samuel F. Berkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

(2008) A. Balreira et al.   HUMAN MOLECULAR GENETICS