Literature DB >> 14729852

Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.

K Goto1, I Nishino, Y K Hayashi.   

Abstract

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Year:  2004        PMID： 14729852      PMCID： PMC1757263          DOI： 10.1136/jmg.2003.008755

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  21 in total

Review 1.  The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy.

Authors:  Silvère M van der Maarel; Rune R Frants
Journal:  Am J Hum Genet       Date:  2005-01-24       Impact factor: 11.025

2.  Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Authors:  Maria Manuela O Tonini; Richard J L F Lemmers; Rita C M Pavanello; Antonia M P Cerqueira; Rune R Frants; Silvere M van der Maarel; Mayana Zatz
Journal:  Hum Genet       Date:  2005-12-08       Impact factor: 4.132

Review 3.  Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.

Authors:  Charis L Himeda; Takako I Jones; Peter L Jones
Journal:  Antioxid Redox Signal       Date:  2014-12-04       Impact factor: 8.401

4.  Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

Authors:  Richard J L F Lemmers; Jelle J Goeman; Patrick J van der Vliet; Merlijn P van Nieuwenhuizen; Judit Balog; Marianne Vos-Versteeg; Pilar Camano; Maria Antonia Ramos Arroyo; Ivonne Jerico; Mark T Rogers; Daniel G Miller; Meena Upadhyaya; Jan J G M Verschuuren; Adolfo Lopez de Munain Arregui; Baziel G M van Engelen; George W Padberg; Sabrina Sacconi; Rabi Tawil; Stephen J Tapscott; Bert Bakker; Silvère M van der Maarel
Journal:  Hum Mol Genet       Date:  2014-09-25       Impact factor: 6.150

5.  Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy.

Authors:  Takako I Jones; Charis L Himeda; Daniel P Perez; Peter L Jones
Journal:  Neuromuscul Disord       Date:  2016-12-23       Impact factor: 4.296

6.  A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Authors:  Mariëlle Wohlgemuth; Richard J Lemmers; Marianne Jonker; Elly van der Kooi; Corinne G Horlings; Baziel G van Engelen; Silvere M van der Maarel; George W Padberg; Nicol C Voermans
Journal:  Neurology       Date:  2018-07-11       Impact factor: 9.910

7.  Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.

Authors:  Takako I Jones; Oliver D King; Charis L Himeda; Sachiko Homma; Jennifer C J Chen; Mary Lou Beermann; Chi Yan; Charles P Emerson; Jeffrey B Miller; Kathryn R Wagner; Peter L Jones
Journal:  Clin Epigenetics       Date:  2015-03-29       Impact factor: 6.551

8.  Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.

Authors:  Emmanuelle Salort-Campana; Karine Nguyen; Rafaelle Bernard; Elisabeth Jouve; Guilhem Solé; Aleksandra Nadaj-Pakleza; Julien Niederhauser; Estelle Charles; Elisabeth Ollagnon; Françoise Bouhour; Sabrina Sacconi; Andoni Echaniz-Laguna; Claude Desnuelle; Christine Tranchant; Christophe Vial; Frederique Magdinier; Marc Bartoli; Marie-Christine Arne-Bes; Xavier Ferrer; Thierry Kuntzer; Nicolas Levy; Jean Pouget; Shahram Attarian
Journal:  Orphanet J Rare Dis       Date:  2015-01-21       Impact factor: 4.123

9.  Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy.

Authors:  Chang-Seok Ki; Seung-Tae Lee; Kyung-Sook Kim; Jong-Won Kim; Yoon-Ho Hong; Jung-Joon Sung; Kyung Seok Park; Kwang-Woo Lee
Journal:  J Korean Med Sci       Date:  2008-12-23       Impact factor: 2.153

10.  Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.

Authors:  Giulia Ricci; Isabella Scionti; Francesco Sera; Monica Govi; Roberto D'Amico; Ilaria Frambolli; Fabiano Mele; Massimiliano Filosto; Liliana Vercelli; Lucia Ruggiero; Angela Berardinelli; Corrado Angelini; Giovanni Antonini; Elisabetta Bucci; Michelangelo Cao; Jessica Daolio; Antonio Di Muzio; Rita Di Leo; Giuliana Galluzzi; Elisabetta Iannaccone; Lorenzo Maggi; Valerio Maruotti; Maurizio Moggio; Tiziana Mongini; Lucia Morandi; Ana Nikolic; Ebe Pastorello; Enzo Ricci; Carmelo Rodolico; Lucio Santoro; Maura Servida; Gabriele Siciliano; Giuliano Tomelleri; Rossella Tupler
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501
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