Literature DB >> 14702950

Congenital myasthenic syndromes: gene mutations.

Kinjii Ohno, Andrew G Engel.   

Abstract

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Year:  2004        PMID： 14702950     DOI： 10.1016/s0960-8966(03)00241-4

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  5 in total

1.  Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

Authors:  Raffaella Brugnoni; Lorenzo Maggi; Eleonora Canioni; Isabella Moroni; Chiara Pantaleoni; Stefano D'Arrigo; Daria Riva; Ferdinando Cornelio; Pia Bernasconi; Renato Mantegazza
Journal:  J Neurol       Date:  2010-02-16       Impact factor: 4.849

2.  Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Authors:  Anne Michalk; Sigmar Stricker; Jutta Becker; Rosemarie Rupps; Tapio Pantzar; Jan Miertus; Giovanni Botta; Valeria G Naretto; Catrin Janetzki; Nausheen Yaqoob; Claus-Eric Ott; Dominik Seelow; Dagmar Wieczorek; Britta Fiebig; Brunhilde Wirth; Markus Hoopmann; Marisa Walther; Friederike Körber; Markus Blankenburg; Stefan Mundlos; Raoul Heller; Katrin Hoffmann
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

Review 3.  The spectrum of congenital myasthenic syndromes.

Authors:  Andrew G Engel; Kinji Ohno; Steven M Sine
Journal:  Mol Neurobiol       Date:  2002 Oct-Dec       Impact factor: 5.682

4.  Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.

Authors:  Amr Abdelgany; John Ealing; Matthew Wood; David Beeson
Journal:  J RNAi Gene Silencing       Date:  2005-07-28

5.  Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm.

Authors:  Amr Abdelgany; John Ealing; Matthew Wood; David Beeson
Journal:  J RNAi Gene Silencing       Date:  2005-07-28
  5 in total

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