Literature DB >> 20554202

171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy.

Rabi Tawil1, Silvere van der Maarel, George W Padberg, Baziel G M van Engelen.   

Abstract

Entities:  

Mesh：

Year:  2010        PMID： 20554202     DOI： 10.1016/j.nmd.2010.04.007

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


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  25 in total

Review 1.  [Standard treatment for myositis and muscular dystrophies].

Authors:  J Schmidt; M Vorgerd
Journal:  Nervenarzt       Date:  2011-06       Impact factor: 1.214

2.  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

Review 3.  RNAi: a potential new class of therapeutic for human genetic disease.

Authors:  Attila A Seyhan
Journal:  Hum Genet       Date:  2011-05-03       Impact factor: 4.132

4.  Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Authors:  Jeffrey Statland; Colleen M Donlin-Smith; Stephen J Tapscott; Silvere van der Maarel; Rabi Tawil
Journal:  J Neuromuscul Dis       Date:  2014

5.  Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.

Authors:  Isabella Scionti; Francesca Greco; Giulia Ricci; Monica Govi; Patricia Arashiro; Liliana Vercelli; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Michelangelo Cao; Antonio Di Muzio; Maurizio Moggio; Lucia Morandi; Enzo Ricci; Carmelo Rodolico; Lucia Ruggiero; Lucio Santoro; Gabriele Siciliano; Giuliano Tomelleri; Carlo Pietro Trevisan; Giuliana Galluzzi; Woodring Wright; Mayana Zatz; Rossella Tupler
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

6.  Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.

Authors:  Katie L Lutz; Lenore Holte; Stephanie A Kliethermes; Carrie Stephan; Katherine D Mathews
Journal:  Neurology       Date:  2013-09-16       Impact factor: 9.910

7.  Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.

Authors:  Jeffrey M Statland; Sabrina Sacconi; Constantine Farmakidis; Colleen M Donlin-Smith; Mina Chung; Rabi Tawil
Journal:  Neurology       Date:  2013-02-27       Impact factor: 9.910

8.  Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Rabi Tawil; John T Kissel; Chad Heatwole; Shree Pandya; Gary Gronseth; Michael Benatar
Journal:  Neurology       Date:  2015-07-28       Impact factor: 9.910

9.  Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy.

Authors:  Katy Eichinger; Chad Heatwole; Susanne Heininger; Nikia Stinson; Carly Matichak Stock; Carla Grosmann; Kathryn R Wagner; Rabi Tawil; Jeffrey M Statland
Journal:  Muscle Nerve       Date:  2016-12-05       Impact factor: 3.217

10.  Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).

Authors:  Maria Elena Lombardo; Elena Carraro; Cristina Sancricca; Michela Armando; Michela Catteruccia; Elena Mazzone; Giulia Ricci; Ferdinando Salamino; Filippo Maria Santorelli; Massimiliano Filosto
Journal:  Acta Myol       Date:  2021-06-30
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