(Q34386791)

1 August 2017

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title

Advances in the genetics of progressive myoclonus epilepsy (English)

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1 August 2017

Delgado-Escueta AV

1

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1 August 2017

Ganesh S

series ordinal

2

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1 August 2017

Yamakawa K

series ordinal

3

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1 August 2017

publication date

1 January 2001

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American Journal of Medical Genetics Part A

1 August 2017

published in

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1 August 2017

volume

106

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1 August 2017

issue

2

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1 August 2017

page(s)

129-138

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Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study.

1 August 2017

cites work

1 reference

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

21 January 2018

1 reference

Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy

21 January 2018

1 reference

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

21 January 2018

1 reference

Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A.

21 January 2018

1 reference

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

21 January 2018

1 reference

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

21 January 2018

1 reference

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

21 January 2018

1 reference

A model for Batten disease protein CLN3: functional implications from homology and mutations

21 January 2018

1 reference

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

21 January 2018

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

21 January 2018

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Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

21 January 2018

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

21 January 2018

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Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

21 January 2018

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Identification of new and common mutations in the EPM2A gene in Lafora disease.

21 January 2018

1 reference

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

21 January 2018

1 reference

Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)

21 January 2018

1 reference

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

1 reference

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

21 January 2018

1 reference

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities

21 January 2018

1 reference

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

21 January 2018

1 reference

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

21 January 2018

1 reference

Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

21 January 2018

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

21 January 2018

1 reference

Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom

21 January 2018

1 reference

21 January 2018

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Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

21 January 2018

1 reference

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

21 January 2018

1 reference

Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons

21 January 2018

1 reference

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

21 January 2018

1 reference

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

21 January 2018

1 reference

Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases

21 January 2018

1 reference

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1575

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1 August 2017

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