Literature DB >> 8201360

Incorrect diagnosis of myotonic dystrophy and its potential consequences revealed by subsequent direct genetic analysis.

P R Barnes, D Hilton-Jones, G Norbury, A Roberts, S M Huson.   

Abstract

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Year:  1994        PMID： 8201360      PMCID： PMC1072951          DOI： 10.1136/jnnp.57.5.662

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


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  4 in total

1.  Instability versus predictability: the molecular diagnosis of myotonic dystrophy.

Authors:  G K Suthers; S M Huson; K E Davies
Journal:  J Med Genet       Date:  1992-11       Impact factor: 6.318

Review 2.  Clinical and genetic aspects of myotonic dystrophy.

Authors:  P R Barnes
Journal:  Br J Hosp Med       Date:  1993 Jun 16-Jul 13

3.  Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

Authors:  C Tsilfidis; A E MacKenzie; G Mettler; J Barceló; R G Korneluk
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

4.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582
  4 in total
  2 in total

Review 1.  Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.

Authors:  Giovanni Meola
Journal:  Acta Myol       Date:  2013-12

Review 2.  Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS.

Authors:  Genevieve Gourdon; Giovanni Meola
Journal:  Front Cell Neurosci       Date:  2017-04-20       Impact factor: 5.505
  2 in total

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