Literature DB >> 17110752

Why a positive genetic test for myotonic dystrophy type I does not always imply the right diagnosis.

S G Meuth, C Kleinschnitz, M Frank, C Wessig, M Bendszus, W Kress, H Wiendl.   

Abstract

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Year:  2006        PMID： 17110752      PMCID： PMC2077422          DOI： 10.1136/jnnp.2006.094912

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells.

Authors:  Marc-André Langlois; Christelle Boniface; Gang Wang; Jessica Alluin; Paul M Salvaterra; Jack Puymirat; John J Rossi; Nan Sook Lee
Journal:  J Biol Chem       Date:  2005-02-18       Impact factor: 5.157

Review 2.  Clinical and molecular aspects of the myotonic dystrophies: a review.

Authors:  Laura Machuca-Tzili; David Brook; David Hilton-Jones
Journal:  Muscle Nerve       Date:  2005-07       Impact factor: 3.217

Review 3.  Neurologic complications of graft-versus-host disease.

Authors:  K R Nelson; M P McQuillen
Journal:  Neurol Clin       Date:  1988-05       Impact factor: 3.806

4.  Homozygosity for CCTG mutation in myotonic dystrophy type 2.

Authors:  Benedikt G H Schoser; Wolfram Kress; Maggie C Walter; Birgit Halliger-Keller; Hanns Lochmüller; Kenneth Ricker
Journal:  Brain       Date:  2004-07-01       Impact factor: 13.501

5.  Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.

Authors:  P Shelbourne; J Davies; J Buxton; M Anvret; E Blennow; M Bonduelle; E Schmedding; I Glass; R Lindenbaum; R Lane
Journal:  N Engl J Med       Date:  1993-02-18       Impact factor: 91.245
  5 in total

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