Literature DB >> 20331711

Unverricht-Lundborg disease (EPM1).

Pierre Genton1.   

Abstract

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Year:  2010        PMID： 20331711     DOI： 10.1111/j.1528-1167.2009.02441.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  11 in total

1.  Sensorimotor, visual, and auditory cortical atrophy in Unverricht-Lundborg disease mapped with cortical thickness analysis.

Authors:  P Koskenkorva; E Niskanen; J Hyppönen; M Könönen; E Mervaala; H Soininen; R Kälviäinen; R Vanninen
Journal:  AJNR Am J Neuroradiol       Date:  2012-01-19       Impact factor: 3.825

2.  Progressive myoclonic epilepsies: definitive and still undetermined causes.

Authors:  Silvana Franceschetti; Roberto Michelucci; Laura Canafoglia; Pasquale Striano; Antonio Gambardella; Adriana Magaudda; Paolo Tinuper; Angela La Neve; Edoardo Ferlazzo; Giuseppe Gobbi; Anna Teresa Giallonardo; Giuseppe Capovilla; Elisa Visani; Ferruccio Panzica; Giuliano Avanzini; Carlo Alberto Tassinari; Amedeo Bianchi; Federico Zara
Journal:  Neurology       Date:  2014-01-02       Impact factor: 9.910

3.  Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Authors:  Laura Canafoglia; Isabella Gilioli; Federica Invernizzi; Vito Sofia; Valeria Fugnanesi; Michela Morbin; Luisa Chiapparini; Tiziana Granata; Simona Binelli; Vidmer Scaioli; Barbara Garavaglia; Nardo Nardocci; Samuel F Berkovic; Silvana Franceschetti
Journal:  Neurology       Date:  2015-06-26       Impact factor: 9.910

Review 4.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

5.  Pore formation by human stefin B in its native and oligomeric states and the consequent amyloid induced toxicity.

Authors:  Gregor Anderluh; Eva Zerovnik
Journal:  Front Mol Neurosci       Date:  2012-08-02       Impact factor: 5.639

6.  Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants.

Authors:  Mira Polajnar; Slavko Ceru; Nataša Kopitar-Jerala; Eva Zerovnik
Journal:  Front Mol Neurosci       Date:  2012-08-24       Impact factor: 5.639

7.  Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review.

Authors:  Mohammed Saadah; Mahfoud El Beshari; Loai Saadah; Hisham Hamdallah; Zeinab Alloub; Amani Ali Al Zaabi; Abdelmatlob Ben-Mussa; Anwaar Ben-Nour
Journal:  Epilepsy Behav Case Rep       Date:  2014-05-04

8.  Human stefin B role in cell's response to misfolded proteins and autophagy.

Authors:  Mira Polajnar; Tina Zavašnik-Bergant; Katja Škerget; Matej Vizovišek; Robert Vidmar; Marko Fonović; Nataša Kopitar-Jerala; Uroš Petrovič; Susanna Navarro; Salvador Ventura; Eva Žerovnik
Journal:  PLoS One       Date:  2014-07-21       Impact factor: 3.240

9.  The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.

Authors:  Silvana Franceschetti; Laura Canafoglia; Fabio Rotondi; Elisa Visani; Alice Granvillano; Ferruccio Panzica
Journal:  BMC Neurol       Date:  2016-11-07       Impact factor: 2.474

10.  3D texture analysis reveals imperceptible MRI textural alterations in the thalamus and putamen in progressive myoclonic epilepsy type 1, EPM1.

Authors:  Sanna Suoranta; Kirsi Holli-Helenius; Päivi Koskenkorva; Eini Niskanen; Mervi Könönen; Marja Äikiä; Hannu Eskola; Reetta Kälviäinen; Ritva Vanninen
Journal:  PLoS One       Date:  2013-07-29       Impact factor: 3.240
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