Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Annals of Neurology

• Publication date

  1999-02-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/1531-8249(199902)45:2<262::AID-ANA20>3.0.CO;2-9PMID 9989632
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  1999cited by this paper
• Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

  1998cited by this paper
• Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.

  1997cited by this paper
• Parametric and nonparametric linkage analysis: a unified multipoint approach.

  1996cited by this paper
• The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

  1995cited by this paper
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• Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

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• Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

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• Lafora disease: Diagnosis by liver biopsy

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• Lafora's Disease: Distinct Clinico-Pathologic Form of Unverricht's Syndrome

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• Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

  1955cited by this paper

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• Engineering Potato Starch with a Higher Phosphate Content

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• Epilepsia mioclónica progresiva tipo Lafora y los casos diagnosticados en Costa Rica

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• Chapter 21 – Myoclonus: Phenomenology, Etiology, Physiology, and Treatment

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  2006cites this paper
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  2005cites this paper
• Lafora progressive myoclonus epilepsy mutation database‐EPM2A and NHLRC1 (EMP2B) genes

  2005cites this paper
• A Second Gene for Lafora Disease

  2004cites this paper
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  2004cites this paper
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• Unusual Presentation of Lafora's Disease

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• Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

  2003cites this paper
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  2003cites this paper
• Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

  2003cites this paper
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  2003cites this paper
• Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.

  2003cites this paper
• Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy

  2003cites this paper
• Suppression of LNCaP prostate cancer xenograft tumors by a prostate‐specific protein tyrosine phosphatase, prostatic acid phosphatase

  2003cites this paper
• Mutations in NHLRC1 cause progressive myoclonus epilepsy

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• Abnormal activity in the globus pallidus in off‐period dystonia

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• Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene.

  2001cites this paper
• Bielschowsky bodies (Lafora bodies of Bielschowsky type): report of a case associated with Rosenthal fibers in the brain stem

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• Advances in the genetics of progressive myoclonus epilepsy.

  2001cites this paper
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• Spinal schistosomiasis.

  2000cites this paper
• Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

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• No induction of apoptosis by IFN-β in human antigen-specific T cells

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  2000cites this paper
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  2000cites this paper
• Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

  2000cites this paper
• Mutation spectrum and predicted function of laforin in Lafora’s progressive myoclonus epilepsy

  2000cites this paper
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  2000cites this paper
• Form, function, and regulation of protein tyrosine phosphatases and their involvement in human diseases.

  2000cites this paper
• 進行性ミオクローヌスてんかんとその近縁疾患 : 病態と診断 : 遺伝子診断ならびに神経生理学的の最近の進歩を中心として

  1999cites this paper