Literature DB >> 15693817

Intergenerational changes of CTG repeat depending on the sex of the transmitting parent in myotonic dystrophy type 1.

V Rakocević-Stojanović, D Savić, S Pavlović, D Lavrnić, Z Stević, I Basta, S Romac, S Apostolski.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2005        PMID: 15693817     DOI: 10.1111/j.1468-1331.2004.01075.x

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN: 1351-5101            Impact factor:   6.089


× No keyword cloud information.
  7 in total

1.  Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.

Authors:  Jovan Pešović; S Perić; M Brkušanin; G Brajušković; V Rakočević-Stojanović; Dušanka Savić-Pavićević
Journal:  Neurogenetics       Date:  2017-09-23       Impact factor: 2.660

2.  [Anticipation in patients with iridescent multicoloured posterior capsular lens opacities ("Christmas tree cataract") : The Role in the diagnosis of myotonic dystrophy].

Authors:  C Reiter; E Gramer
Journal:  Ophthalmologe       Date:  2009-12       Impact factor: 1.059

3.  Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells.

Authors:  Jovan Pešović; Stojan Perić; Miloš Brkušanin; Goran Brajušković; Vidosava Rakočević-Stojanović; Dušanka Savić-Pavićević
Journal:  Front Genet       Date:  2018-11-27       Impact factor: 4.599

Review 4.  Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.

Authors:  Stojan Peric; Jovan Pesovic; Dusanka Savic-Pavicevic; Vidosava Rakocevic Stojanovic; Giovanni Meola
Journal:  Int J Mol Sci       Date:  2021-12-29       Impact factor: 5.923

5.  Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1.

Authors:  Ji Yoon Han; Woori Jang; Joonhong Park
Journal:  Genes (Basel)       Date:  2022-08-17       Impact factor: 4.141

6.  Identification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.

Authors:  Rea Valaperta; Valeria Sansone; Fortunata Lombardi; Chiara Verdelli; Alessio Colombo; Massimiliano Valisi; Elisa Brigonzi; Elena Costa; Giovanni Meola
Journal:  Biomed Res Int       Date:  2013-05-09       Impact factor: 3.411

7.  Myotonic Dystrophy-A Progeroid Disease?

Authors:  Peter Meinke; Stefan Hintze; Sarah Limmer; Benedikt Schoser
Journal:  Front Neurol       Date:  2018-07-25       Impact factor: 4.003

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.