Concepedia

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

Marsha Zeigler, Vardiella Meiner, J. P. Newman, Bettina Steiner‐Birmanns, Ruth Bargal, Vivi Sury, Getu Mengistu, Or Kakhlon, Ina leykin, Zohar Argov,

Journal of the Neurological Sciences · 2014 · 22 citations · 15 references

DOI

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References

15

LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase

David Reczek, Michael Schwake, J Schröder et al. · Cell · 2007 · 525 citations · Full text

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

Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack et al. · The American Journal of Human Genetics · 2008 · 259 citations · Full text

, , +12

Molecular Determinants of Enterovirus 71 Viral Entry

Zilin Song, Yonghe Qi, Xiaofeng Feng et al. · Journal of Biological Chemistry · 2012 · 131 citations · Full text

, , +17

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.

S. S. Raghavan, J Topol, Edwin H. Kolodny · PubMed · 1980 · 124 citations

, , +6

LIMP-2/LGP85 deficiency causes ureteric pelvic junction obstruction, deafness and peripheral neuropathy in mice

A.-C. Gamp, Yoshitaka Tanaka, R Lüllmann-Rauch et al. · Human Molecular Genetics · 2003 · 124 citations · Full text

, , +17