Literature DB >> 8162011

Myotonic dystrophy reviewed: back to the future?

B Wieringa1.   

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Year:  1994        PMID： 8162011     DOI： 10.1093/hmg/3.1.1-a

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  15 in total

1.  Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Authors:  J S Rubinsztein; D C Rubinsztein; P J McKenna; S Goodburn; A J Holland
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  Segregation distortion of the CTG repeats at the myotonic dystrophy locus.

Authors:  R Chakraborty; D N Stivers; R Deka; L M Yu; M D Shriver; R E Ferrell
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.

Authors:  M G Hamshere; E E Newman; M Alwazzan; B S Athwal; J D Brook
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-08       Impact factor: 11.205

4.  Identification of a highly polymorphic length variant in the 3'UTR of NRAMP1.

Authors:  N T Buu; M Cellier; P Gros; E Schurr
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

5.  The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.

Authors:  P Steinbach; D Gläser; W Vogel; M Wolf; S Schwemmle
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

6.  Apathy and hypersomnia are common features of myotonic dystrophy.

Authors:  J S Rubinsztein; D C Rubinsztein; S Goodburn; A J Holland
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-04       Impact factor: 10.154

Review 7.  Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive.

Authors:  P N Strong; B S Brewster
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

8.  Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

Authors:  V M Park; E K Pivnick
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

9.  Trinucleotide repeats and neuropsychiatric disorders.

Authors:  K T Shetty; R Christopher
Journal:  Indian J Clin Biochem       Date:  2000-08

10.  Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.

Authors:  C E de Die-Smulders; C J Höweler; J F Mirandolle; H G Brunner; V Hovers; H Brüggenwirth; H J Smeets; J P Geraedts
Journal:  J Med Genet       Date:  1994-08       Impact factor: 6.318
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