Lafora's disease: towards a clinical, pathologic, and molecular synthesis (Q34085650)

30 July 2017

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title

Lafora's disease: towards a clinical, pathologic, and molecular synthesis (English)

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30 July 2017

Minassian BA

1

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30 July 2017

publication date

1 July 2001

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30 July 2017

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30 July 2017

volume

25

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30 July 2017

issue

1

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30 July 2017

page(s)

21-29

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The neuronal ceroid-lipofuscinoses

30 July 2017

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Lafora's disease: peroxisomal storage in skeletal muscle

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Lafora disease: Diagnosis by liver biopsy

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Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

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Lafora disease: Liver histopathology in presymptomatic children

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Lafora's disease. Comparison of inclusion bodies in skin and in brain

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Biopsy results in a kindred with Lafora disease

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Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.

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Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

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A case of Lafora's disease associated with cardiac arrhythmia.

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7 January 2021

Photic cortical reflex myoclonus

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Photic reflex myoclonus: a neurophysiological study in progressive myoclonus epilepsies.

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7 January 2021

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Corpora-amylacea and the family of polyglucosan diseases

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7 January 2021

Studies in myoclonus epilepsy. 3. The effects of amylolytic enzymes on the ultrastructure of Lafora bodies

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7 January 2021

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora'

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7 January 2021

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene

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7 January 2021

Ultrastructural findings in Lafora disease

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7 January 2021

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

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7 January 2021

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

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7 January 2021

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

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7 January 2021

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

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7 January 2021

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

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7 January 2021

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase

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7 January 2021

From form to function: signaling by protein tyrosine phosphatases.

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7 January 2021

PTEN modulates cell cycle progression and cell survival by regulating phosphatidylinositol 3,4,5,-trisphosphate and Akt/protein kinase B signaling pathway

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7 January 2021

Human PIR1 of the protein-tyrosine phosphatase superfamily has RNA 5'-triphosphatase and diphosphatase activities

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7 January 2021

Updating the sequence-based classification of glycosyl hydrolases

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7 January 2021

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7 January 2021

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7 January 2021

Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora disease

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7 January 2021

Glycogen accumulation in the nerves and kidney of chronically diabetic rats. A quantitative electron microscopic study.

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7 January 2021

Metabotropic glutamate receptor-initiated translocation of protein kinase p90rsk to polyribosomes: a possible factor regulating synaptic protein synthesis

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7 January 2021

Lafora's disease. An ultrastructural and histochemical study.

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7 January 2021

Kinases and phosphatases--a marriage is consummated

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7 January 2021

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Identifiers

DOI

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30 July 2017

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