Literature DB >> 23507025

New insights about the incidence, multisystem manifestations, and care of patients with congenital myotonic dystrophy.

James E Hilbert, Nicholas E Johnson, Richard T Moxley.   

Abstract

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Year:  2013        PMID： 23507025     DOI： 10.1016/j.jpeds.2013.02.022

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  2 in total

1.  CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.

Authors:  Lise Barbé; Stella Lanni; Arturo López-Castel; Silvie Franck; Claudia Spits; Kathelijn Keymolen; Sara Seneca; Stephanie Tomé; Ioana Miron; Julie Letourneau; Minggao Liang; Sanaa Choufani; Rosanna Weksberg; Michael D Wilson; Zdenek Sedlacek; Cynthia Gagnon; Zuzana Musova; David Chitayat; Patrick Shannon; Jean Mathieu; Karen Sermon; Christopher E Pearson
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

Review 2.  Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.

Authors:  Andrea Barp; Lorena Mosca; Valeria Ada Sansone
Journal:  Diagnostics (Basel)       Date:  2021-04-14
  2 in total

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