Literature DB >> 19171836

Novel FHL1 mutations in fatal and benign reducing body myopathy.

S Shalaby1, Y K Hayashi, I Nonaka, S Noguchi, I Nishino.   

Abstract

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Year:  2009        PMID： 19171836     DOI： 10.1212/01.wnl.0000341311.84347.a0

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


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  19 in total

1.  Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Authors:  Pushpa Narayanaswami; Michael Weiss; Duygu Selcen; William David; Elizabeth Raynor; Gregory Carter; Matthew Wicklund; Richard J Barohn; Erik Ensrud; Robert C Griggs; Gary Gronseth; Anthony A Amato
Journal:  Neurology       Date:  2014-10-14       Impact factor: 9.910

2.  199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands.

Authors:  Anne T Bertrand; Carsten G Bönnemann; Gisèle Bonne
Journal:  Neuromuscul Disord       Date:  2014-02-14       Impact factor: 4.296

3.  Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Authors:  Valentina Emmanuele; Akatsuki Kubota; Beatriz Garcia-Diaz; Caterina Garone; Hasan O Akman; Daniel Sánchez-Gutiérrez; Luis M Escudero; Shingo Kariya; Shunichi Homma; Kurenai Tanji; Catarina M Quinzii; Michio Hirano
Journal:  Hum Mol Genet       Date:  2014-09-30       Impact factor: 6.150

4.  Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.

Authors:  Anna Sarkozy; Christian Windpassinger; Judith Hudson; Charlotte F Dougan; Bryan Lecky; David Hilton-Jones; Michelle Eagle; Richard Charlton; Rita Barresi; Hanns Lochmüller; Kate Bushby; Volker Straub
Journal:  Eur J Hum Genet       Date:  2011-06-01       Impact factor: 4.246

5.  A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Authors:  Leigh B Waddell; Jenny Tran; Xi F Zheng; Carsten G Bönnemann; Ying Hu; Frances J Evesson; Monkol Lek; Susan Arbuckle; Min-Xia Wang; Robert L Smith; Kathryn N North; Nigel F Clarke
Journal:  Neuromuscul Disord       Date:  2011-06-17       Impact factor: 4.296

6.  FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.

Authors:  ZhenXian Hu; Ying Zhu; Xiao Liu; Wei Zhang; Jing Liu; Shiwen Wu; Jiangxi Xiao; Yun Yuan; Zhaoxia Wang
Journal:  J Hum Genet       Date:  2019-07-04       Impact factor: 3.172

7.  Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Authors:  Heather R Tiffin; Zandra A Jenkins; Mary J Gray; Sophia R Cameron-Christie; Jennifer Eaton; Salim Aftimos; David Markie; Stephen P Robertson
Journal:  Neurogenetics       Date:  2013-03-02       Impact factor: 2.660

8.  Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Authors:  Lucie Gueneau; Anne T Bertrand; Jean-Philippe Jais; Mustafa A Salih; Tanya Stojkovic; Manfred Wehnert; Maria Hoeltzenbein; Simone Spuler; Shinji Saitoh; Annie Verschueren; Christine Tranchant; Maud Beuvin; Emmanuelle Lacene; Norma B Romero; Simon Heath; Diana Zelenika; Thomas Voit; Bruno Eymard; Rabah Ben Yaou; Gisèle Bonne
Journal:  Am J Hum Genet       Date:  2009-08-27       Impact factor: 11.025

9.  SLIMMER (FHL1B/KyoT3) interacts with the proapoptotic protein Siva-1 (CD27BP) and delays skeletal myoblast apoptosis.

Authors:  Denny L Cottle; Meagan J McGrath; Brendan R Wilding; Belinda S Cowling; Jordan M Kane; Colleen E D'Arcy; Melissa Holdsworth; Irene Hatzinisiriou; Mark Prescott; Susan Brown; Christina A Mitchell
Journal:  J Biol Chem       Date:  2009-07-29       Impact factor: 5.157

10.  Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies.

Authors:  Inka Albrecht; Cecilia Wick; Åsa Hallgren; Anna Tjärnlund; Kanneboyina Nagaraju; Felipe Andrade; Kathryn Thompson; William Coley; Aditi Phadke; Lina-Marcela Diaz-Gallo; Matteo Bottai; Inger Nennesmo; Karine Chemin; Jessica Herrath; Karin Johansson; Anders Wikberg; A Jimmy Ytterberg; Roman A Zubarev; Olof Danielsson; Olga Krystufkova; Jiri Vencovsky; Nils Landegren; Marie Wahren-Herlenius; Leonid Padyukov; Olle Kämpe; Ingrid E Lundberg
Journal:  J Clin Invest       Date:  2015-11-09       Impact factor: 14.808
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