A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity-Reference-Cited by-同舟云学术

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

Published:2014-04 Issue:1-2 Volume:339 Page:210-213
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Zeigler Marsha,Meiner Vardiella,Newman J.P.,Steiner-Birmanns Bettina,Bargal Ruth,Sury Vivi,Mengistu Getu,Kakhlon Or^ORCID,Leykin Ina,Argov Zohar,Abramsky Oded,Lossos Alexander

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference18 articles.

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2. Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy;Dibbens;Arch Neurol,2011

3. A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2;Perandones;Mov Disord,2012

4. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am J Hum Genet,2008

5. LIPM-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of β-glucocerebrosidase;Reczek;Cell,2007

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