Literature DB >> 26448727

Has Progress Been Made in Progressive Myoclonic Epilepsy (EPM1)?

M Scott Perry.   

Abstract

Entities:  

Year:  2015        PMID： 26448727      PMCID： PMC4591855          DOI： 10.5698/1535-7511-15.5.253

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  10 in total

1.  Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients.

Authors:  R Norio; M Koskiniemi
Journal:  Clin Genet       Date:  1979-05       Impact factor: 4.438

Review 2.  Progressive myoclonus epilepsies: specific causes and diagnosis.

Authors:  S F Berkovic; F Andermann; S Carpenter; L S Wolfe
Journal:  N Engl J Med       Date:  1986-07-31       Impact factor: 91.245

3.  Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

Authors:  V Campuzano; L Montermini; Y Lutz; L Cova; C Hindelang; S Jiralerspong; Y Trottier; S J Kish; B Faucheux; P Trouillas; F J Authier; A Dürr; J L Mandel; A Vescovi; M Pandolfo; M Koenig
Journal:  Hum Mol Genet       Date:  1997-10       Impact factor: 6.150

4.  Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

Authors:  M D Lalioti; H S Scott; S E Antonarakis
Journal:  Hum Mol Genet       Date:  1999-09       Impact factor: 6.150

5.  Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats.

Authors:  A Mazarib; L Xiong; M Y Neufeld; M Birnbaum; A D Korczyn; M Pandolfo; S F Berkovic
Journal:  Neurology       Date:  2001-09-25       Impact factor: 9.910

6.  Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.

Authors:  L Montermini; A Richter; K Morgan; C M Justice; D Julien; B Castellotti; J Mercier; J Poirier; F Capozzoli; J P Bouchard; B Lemieux; J Mathieu; M Vanasse; M H Seni; G Graham; F Andermann; E Andermann; S B Melançon; B J Keats; S Di Donato; M Pandolfo
Journal:  Ann Neurol       Date:  1997-05       Impact factor: 10.422

7.  Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study.

Authors:  Jelena Hyppönen; Marja Äikiä; Tarja Joensuu; Petro Julkunen; Nils Danner; Päivi Koskenkorva; Ritva Vanninen; Anna-Elina Lehesjoki; Esa Mervaala; Reetta Kälviäinen
Journal:  Neurology       Date:  2015-03-13       Impact factor: 9.910

8.  A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

Authors:  M D Lalioti; H S Scott; P Genton; D Grid; R Ouazzani; A M'Rabet; S Ibrahim; R Gouider; C Dravet; T Chkili; A Bottani; C Buresi; A Malafosse; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

9.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245

10.  Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1).

Authors:  Nils Danner; Petro Julkunen; Jelena Khyuppenen; Taina Hukkanen; Mervi Könönen; Laura Säisänen; Päivi Koskenkorva; Ritva Vanninen; Anna-Elina Lehesjoki; Reetta Kälviäinen; Esa Mervaala
Journal:  Epilepsy Res       Date:  2009-03-24       Impact factor: 3.045
  10 in total

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