Literature DB >> 21543227

Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands.

B Udd1, G Meola, R Krahe, D G Wansink, G Bassez, W Kress, B Schoser, R Moxley.   

Abstract

Entities:  

Mesh:

Year:  2011        PMID: 21543227     DOI: 10.1016/j.nmd.2011.03.013

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


× No keyword cloud information.
  18 in total

1.  Diagnostic odyssey of patients with myotonic dystrophy.

Authors:  James E Hilbert; Tetsuo Ashizawa; John W Day; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Rabi Tawil; Charles A Thornton; Richard T Moxley
Journal:  J Neurol       Date:  2013-06-27       Impact factor: 4.849

2.  Nuclear ribonucleoprotein-containing foci increase in size in non-dividing cells from patients with myotonic dystrophy type 2.

Authors:  M Giagnacovo; M Malatesta; R Cardani; G Meola; C Pellicciari
Journal:  Histochem Cell Biol       Date:  2012-06-17       Impact factor: 4.304

3.  If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Authors:  James E Hilbert; John T Kissel; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Donald B Sanders; Rabi Tawil; Charles A Thornton; Richard T Moxley
Journal:  Contemp Clin Trials       Date:  2011-11-26       Impact factor: 2.226

4.  Clinical, pathological and genetic characteristics of a pedigree with myotonic dystrophy type 1.

Authors:  Qing Liu; Yu-Fei Zheng; Yan-Ping Zhu; Shi-Qing Ling; Wei-Rong Li
Journal:  Exp Ther Med       Date:  2015-09-09       Impact factor: 2.447

Review 5.  Multidisciplinary approach to the management of myopathies.

Authors:  Wendy M King; John T Kissel
Journal:  Continuum (Minneap Minn)       Date:  2013-12

6.  A fly model for the CCUG-repeat expansion of myotonic dystrophy type 2 reveals a novel interaction with MBNL1.

Authors:  Zhenming Yu; Lindsey D Goodman; Shin-Yi Shieh; Michelle Min; Xiuyin Teng; Yongqing Zhu; Nancy M Bonini
Journal:  Hum Mol Genet       Date:  2014-10-09       Impact factor: 6.150

7.  Deregulated microRNAs in myotonic dystrophy type 2.

Authors:  Simona Greco; Alessandra Perfetti; Pasquale Fasanaro; Rosanna Cardani; Maurizio C Capogrossi; Giovanni Meola; Fabio Martelli
Journal:  PLoS One       Date:  2012-06-29       Impact factor: 3.240

8.  Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia.

Authors:  M Malatesta; M Giagnacovo; M Costanzo; B Cisterna; R Cardani; G Meola
Journal:  Eur J Histochem       Date:  2013-04-22       Impact factor: 3.188

9.  Late-onset neuromuscular disorders in the differential diagnosis of sarcopenia.

Authors:  Fabian Hofmeister; Lisa Baber; Uta Ferrari; Stefan Hintze; Stefanie Jarmusch; Sabine Krause; Peter Meinke; Stefan Mehaffey; Carl Neuerburg; Fabiana Tangenelli; Benedikt Schoser; Michael Drey
Journal:  BMC Neurol       Date:  2021-06-25       Impact factor: 2.474

10.  Myotonic Dystrophy Type 1 Complicated With Peripheral Arterial Occlusive Disease: A Case Report.

Authors:  Dong Hun Lee; Dong Sik Park; Dong Hyun Kim; Sang Hun Lee; Hee Mun Cho
Journal:  Ann Rehabil Med       Date:  2015-08-25
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.