Literature DB >> 10746587

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC).

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Year:  2000        PMID： 10746587     DOI： 10.1212/wnl.54.6.1218

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  49 in total

Review 1.  Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation.

Authors:  R P Junghans; A Ebralidze; B Tiwari
Journal:  Neurogenetics       Date:  2001-03       Impact factor: 2.660

Review 2.  Therapeutics development in myotonic dystrophy type 1.

Authors:  Erin Pennock Foff; Mani S Mahadevan
Journal:  Muscle Nerve       Date:  2011-05-23       Impact factor: 3.217

3.  Myotonic dystrophy health index: Correlations with clinical tests and patient function.

Authors:  Chad Heatwole; Rita Bode; Nicholas E Johnson; Jeanne Dekdebrun; Nuran Dilek; Katy Eichinger; James E Hilbert; Eric Logigian; Elizabeth Luebbe; William Martens; Michael P Mcdermott; Shree Pandya; Araya Puwanant; Nan Rothrock; Charles Thornton; Barbara G Vickrey; David Victorson; Richard T Moxley
Journal:  Muscle Nerve       Date:  2015-12-29       Impact factor: 3.217

4.  Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study.

Authors:  Renata Conforti; Mario de Cristofaro; Adriana Cristofano; Barbara Brogna; Angela Sardaro; Gioacchino Tedeschi; Sossio Cirillo; Alfonso Di Costanzo
Journal:  Neuroradiol J       Date:  2016-01-11

Review 5.  Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.

Authors:  Giovanni Meola; Rosanna Cardani
Journal:  Neurol Sci       Date:  2017-01-11       Impact factor: 3.307

Review 6.  Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes.

Authors:  Kevin Yum; Eric T Wang; Auinash Kalsotra
Journal:  Curr Opin Genet Dev       Date:  2017-02-14       Impact factor: 5.578

7.  Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.

Authors:  Linda L Bachinski; Bjarne Udd; Giovanni Meola; Valeria Sansone; Guillaume Bassez; Bruno Eymard; Charles A Thornton; Richard T Moxley; Peter S Harper; Mark T Rogers; Karin Jurkat-Rott; Frank Lehmann-Horn; Thomas Wieser; Josep Gamez; Carmen Navarro; Armand Bottani; Andre Kohler; Mark D Shriver; Riitta Sallinen; Maija Wessman; Shanxiang Zhang; Fred A Wright; Ralf Krahe
Journal:  Am J Hum Genet       Date:  2003-09-10       Impact factor: 11.025

8.  Heart rate variability declines with increasing age and CTG repeat length in patients with myotonic dystrophy type 1.

Authors:  Bradley A Hardin; Miriam R Lowe; Deepak Bhakta; William J Groh
Journal:  Ann Noninvasive Electrocardiol       Date:  2003-07       Impact factor: 1.468

9.  Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1).

Authors:  Nihan Erginel-Unaltuna; Fahri Akbas
Journal:  J Clin Lab Anal       Date:  2004       Impact factor: 2.352

10.  Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

Authors:  Maria Laura Ester Bianchi; Emanuele Leoncini; Marcella Masciullo; Anna Modoni; Shahinaz M Gadalla; Roberto Massa; Emanuele Rastelli; Chiara Terracciano; Giovanni Antonini; Elisabetta Bucci; Antonio Petrucci; Sandro Costanzi; Massimo Santoro; Stefania Boccia; Gabriella Silvestri
Journal:  J Neurol       Date:  2016-01-06       Impact factor: 4.849
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