(Q46005121)

18 December 2017

title

Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. (English)

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18 December 2017

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Andrea Dardis

1

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18 December 2017

Mirella Filocamo

2

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18 December 2017

Serena Grossi

3

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18 December 2017

Giovanni Ciana

4

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18 December 2017

Silvana Franceschetti

5

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18 December 2017

Silvia Dominissini

6

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18 December 2017

Guido Rubboli

7

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18 December 2017

Maya Di Rocco

8

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18 December 2017

Bruno Bembi

9

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18 December 2017

publication date

3 May 2009

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18 December 2017

Molecular Genetics and Metabolism

published in

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18 December 2017

volume

97

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18 December 2017

issue

4

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18 December 2017

page(s)

309-311

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18 December 2017

Isolation and sequencing of a cDNA clone encoding the 85 kDa human lysosomal sialoglycoprotein (hLGP85) in human metastatic pancreas islet tumor cells

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.04.011

10.1016/J.YMGME.2009.04.011

7 January 2021

Identifiers

DOI

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18 December 2017

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18 December 2017