Literature DB >> 15009235

A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

Grazia Annesi, Vito Sofia, Antonio Gambardella, Innocenza C Cirò Candiano, Patrizia Spadafora, Ferdinanda Annesi, Nunzio Cutuli, Elvira V De Marco, Donatella Civitelli, Sara Carrideo, Patrizia Tarantino, Rita Barone, Mario Zappia, Aldo Quattrone.   

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Year:  2004        PMID: 15009235     DOI: 10.1111/j.0013-9580.2004.33203.x

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


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  7 in total

Review 1.  Lafora disease: epidemiology, pathophysiology and management.

Authors:  Thomas S Monaghan; Norman Delanty
Journal:  CNS Drugs       Date:  2010-07       Impact factor: 5.749

2.  Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Authors:  Shweta Singh; Toshimitsu Suzuki; Akira Uchiyama; Satoko Kumada; Nobuko Moriyama; Shinichi Hirose; Yukitoshi Takahashi; Hideo Sugie; Koichi Mizoguchi; Yushi Inoue; Kazue Kimura; Yukio Sawaishi; Kazuhiro Yamakawa; Subramaniam Ganesh
Journal:  J Hum Genet       Date:  2005-07-15       Impact factor: 3.172

Review 3.  Lafora disease.

Authors:  Julie Turnbull; Erica Tiberia; Pasquale Striano; Pierre Genton; Stirling Carpenter; Cameron A Ackerley; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

Review 4.  Lafora disease: from genotype to phenotype.

Authors:  Rashmi Parihar; Anupama Rai; Subramaniam Ganesh
Journal:  J Genet       Date:  2018-07       Impact factor: 1.166

5.  Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.

Authors:  S Singh; I Sethi; S Francheschetti; C Riggio; G Avanzini; K Yamakawa; A V Delgado-Escueta; S Ganesh
Journal:  J Med Genet       Date:  2006-09       Impact factor: 6.318

Review 6.  Lafora disease - from pathogenesis to treatment strategies.

Authors:  Felix Nitschke; Saija J Ahonen; Silvia Nitschke; Sharmistha Mitra; Berge A Minassian
Journal:  Nat Rev Neurol       Date:  2018-10       Impact factor: 42.937

Review 7.  Genetics of Lafora progressive myoclonic epilepsy: current perspectives.

Authors:  Miljana Kecmanović; Milica Keckarević-Marković; Dušan Keckarević; Galina Stevanović; Nebojša Jović; Stanka Romac
Journal:  Appl Clin Genet       Date:  2016-05-02
  7 in total

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