Literature DB >> 30979855

FSHD1 or FSHD2: That is the question: The answer: It's all just FSHD.

Nicholas E Johnson1, Jeffrey M Statland2.   

Abstract

Entities:  

Year:  2019        PMID： 30979855     DOI： 10.1212/WNL.0000000000007446

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


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  3 in total

1.  Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.

Authors:  Takako I Jones; Guo-Liang Chew; Pamela Barraza-Flores; Spencer Schreier; Monique Ramirez; Ryan D Wuebbles; Dean J Burkin; Robert K Bradley; Peter L Jones
Journal:  Skelet Muscle       Date:  2020-04-11       Impact factor: 4.912

2.  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

3.  Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy.

Authors:  Nizar Y Saad; Mustafa Al-Kharsan; Sara E Garwick-Coppens; Gholamhossein Amini Chermahini; Madison A Harper; Andrew Palo; Ryan L Boudreau; Scott Q Harper
Journal:  Nat Commun       Date:  2021-12-08       Impact factor: 14.919
  3 in total

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