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Literature DB >> 9345091

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

J Sainz, B A Minassian, J M Serratosa, M N Gee, L M Sakamoto, R Iranmanesh, S Bohlega, R J Baumann, S Ryan, R S Sparkes, A V Delgado-Escueta.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 1997 PMID： 9345091 PMCID： PMC1716039 DOI： 10.1086/301596

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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18 in total

1. Tissue extraction of DNA and RNA and analysis by the polymerase chain reaction.

Authors: D P Jackson; F A Lewis; G R Taylor; A W Boylston; P Quirke
Journal: J Clin Pathol Date: 1990-06 Impact factor: 3.411

2. PCR amplification from paraffin-embedded tissues. Effects of fixative and fixation time.

Authors: C E Greer; S L Peterson; N B Kiviat; M M Manos
Journal: Am J Clin Pathol Date: 1991-02 Impact factor: 2.493

3. Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors: L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal: Am J Hum Genet Date: 1996-06 Impact factor: 11.025

4. Two major isozymes of the protein D-aspartyl/L-isoaspartyl methyltransferase from human erythrocytes.

Authors: I M Ota; J M Gilbert; S Clarke
Journal: Biochem Biophys Res Commun Date: 1988-03-30 Impact factor: 3.575

5. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors: J L Weber; P E May
Journal: Am J Hum Genet Date: 1989-03 Impact factor: 11.025

6. A YAC contig map of the human genome.

Authors: I M Chumakov; P Rigault; I Le Gall; C Bellanné-Chantelot; A Billault; S Guillou; P Soularue; G Guasconi; E Poullier; I Gros
Journal: Nature Date: 1995-09-28 Impact factor: 49.962

7. A comprehensive genetic map of the human genome based on 5,264 microsatellites.

Authors: C Dib; S Fauré; C Fizames; D Samson; N Drouot; A Vignal; P Millasseau; S Marc; J Hazan; E Seboun; M Lathrop; G Gyapay; J Morissette; J Weissenbach
Journal: Nature Date: 1996-03-14 Impact factor: 49.962

8. Amino acid polymorphisms of the human L-isoaspartyl/D-aspartyl methyltransferase involved in protein repair.

Authors: W Tsai; S Clarke
Journal: Biochem Biophys Res Commun Date: 1994-08-30 Impact factor: 3.575

9. The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10.

Authors: D C MacLaren; C M O'Connor; Y R Xia; M Mehrabian; I Klisak; R S Sparkes; S Clarke; A J Lusis
Journal: Genomics Date: 1992-12 Impact factor: 5.736

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

1. Tissue extraction of DNA and RNA and analysis by the polymerase chain reaction.

2. PCR amplification from paraffin-embedded tissues. Effects of fixative and fixation time.

3. Parametric and nonparametric linkage analysis: a unified multipoint approach.

4. Two major isozymes of the protein D-aspartyl/L-isoaspartyl methyltransferase from human erythrocytes.

5. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

6. A YAC contig map of the human genome.

7. A comprehensive genetic map of the human genome based on 5,264 microsatellites.

8. Amino acid polymorphisms of the human L-isoaspartyl/D-aspartyl methyltransferase involved in protein repair.

9. The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10.

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

Review 1. Lafora disease: from genotype to phenotype.

Review 2. Advances in lafora progressive myoclonus epilepsy.

3. Genetics of inherited human epilepsies.

Review 4. Genetic and epigenetic mechanisms of epilepsy: a review.