Literature DB >> 28625604

225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.

Karlien Mul1, June Kinoshita2, Hugh Dawkins3, Baziel van Engelen1, Rossella Tupler4.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 28625604     DOI： 10.1016/j.nmd.2017.04.004

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


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  6 in total

1.  The facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS).

Authors:  Karlien Mul; Tatiana Hamadeh; Corinne G C Horlings; Rabi Tawil; Jeffrey M Statland; Sabrina Sacconi; Alastair J Corbett; Nicol C Voermans; Catharina G Faber; Baziel G M van Engelen; Ingemar S J Merkies
Journal:  Eur J Neurol       Date:  2021-05-02       Impact factor: 6.089

Review 2.  Current Therapeutic Approaches in FSHD.

Authors:  Leo H Wang; Rabi Tawil
Journal:  J Neuromuscul Dis       Date:  2021

3.  The French National Registry of patients with Facioscapulohumeral muscular dystrophy.

Authors:  Céline Guien; Gaëlle Blandin; Pauline Lahaut; Benoît Sanson; Katia Nehal; Sitraka Rabarimeriarijaona; Rafaëlle Bernard; Nicolas Lévy; Sabrina Sacconi; Christophe Béroud
Journal:  Orphanet J Rare Dis       Date:  2018-12-04       Impact factor: 4.123

4.  Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.

Authors:  Giulia Ricci; Fabiano Mele; Monica Govi; Lucia Ruggiero; Francesco Sera; Liliana Vercelli; Cinzia Bettio; Lucio Santoro; Tiziana Mongini; Luisa Villa; Maurizio Moggio; Massimiliano Filosto; Marina Scarlato; Stefano C Previtali; Silvia Maria Tripodi; Elena Pegoraro; Roberta Telese; Antonio Di Muzio; Carmelo Rodolico; Elisabetta Bucci; Giovanni Antonini; Maria Grazia D'Angelo; Angela Berardinelli; Lorenzo Maggi; Rachele Piras; Maria Antonietta Maioli; Gabriele Siciliano; Giuliano Tomelleri; Corrado Angelini; Rossella Tupler
Journal:  Sci Rep       Date:  2020-12-10       Impact factor: 4.379

5.  Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

Authors:  Christophe Béroud; Sabrina Sacconi; Benoît Sanson; Caroline Stalens; Céline Guien; Luisa Villa; Catherine Eng; Sitraka Rabarimeriarijaona; Rafaëlle Bernard; Pascal Cintas; Guilhem Solé; Vincent Tiffreau; Andoni Echaniz-Laguna; Armelle Magot; Raul Juntas Morales; François Constant Boyer; Aleksandra Nadaj-Pakleza; Agnès Jacquin-Piques
Journal:  Orphanet J Rare Dis       Date:  2022-03-02       Impact factor: 4.123

6.  A 5-year clinical follow-up study from the Italian National Registry for FSHD.

Authors:  Liliana Vercelli; Fabiano Mele; Lucia Ruggiero; Francesco Sera; Silvia Tripodi; Giulia Ricci; Antonio Vallarola; Luisa Villa; Monica Govi; Louise Maranda; Antonio Di Muzio; Marina Scarlato; Elisabetta Bucci; Lorenzo Maggi; Carmelo Rodolico; Maurizio Moggio; Massimiliano Filosto; Giovanni Antonini; Stefano Previtali; Corrado Angelini; Angela Berardinelli; Elena Pegoraro; Gabriele Siciliano; Giuliano Tomelleri; Lucio Santoro; Tiziana Mongini; Rossella Tupler
Journal:  J Neurol       Date:  2020-08-19       Impact factor: 4.849
  6 in total

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