Literature DB >> 15520409

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J Müller-Höcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner.   

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Year:  2004        PMID： 15520409      PMCID： PMC1735626          DOI： 10.1136/jmg.2004.020271

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


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  23 in total

1.  Clinical utility gene card for: Multi-minicore disease.

Authors:  Suzanne Lillis; Steve Abbs; Ana Ferreiro; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-19       Impact factor: 4.246

2.  Clinical utility gene card for: Central core disease.

Authors:  Suzanne Lillis; Stephen Abbs; Clemens R Mueller; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-12       Impact factor: 4.246

3.  An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Authors:  Cristina Dias; Murat Sincan; Praveen F Cherukuri; Rosemarie Rupps; Yan Huang; Hannah Briemberg; Kathryn Selby; James C Mullikin; Thomas C Markello; David R Adams; William A Gahl; Cornelius F Boerkoel
Journal:  Hum Mutat       Date:  2012-02-28       Impact factor: 4.878

4.  Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Authors:  Kristen Zukosky; Katherine Meilleur; Bryan J Traynor; Jahannaz Dastgir; Livija Medne; Marcella Devoto; James Collins; Jachinta Rooney; Yaqun Zou; Michele L Yang; J Raphael Gibbs; Markus Meier; Joerg Stetefeld; Richard S Finkel; Joachim Schessl; Lauren Elman; Kevin Felice; Toby A Ferguson; Ozge Ceyhan-Birsoy; Alan H Beggs; Gihan Tennekoon; Janel O Johnson; Carsten G Bönnemann
Journal:  JAMA Neurol       Date:  2015-06       Impact factor: 18.302

5.  Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Authors:  Nigel G Laing; Danielle E Dye; Carina Wallgren-Pettersson; Gabriele Richard; Nicole Monnier; Suzanne Lillis; Thomas L Winder; Hanns Lochmüller; Claudio Graziano; Stella Mitrani-Rosenbaum; Darren Twomey; John C Sparrow; Alan H Beggs; Kristen J Nowak
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

Review 6.  Congenital myopathies: an update.

Authors:  Jessica R Nance; James J Dowling; Elizabeth M Gibbs; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2012-04       Impact factor: 5.081

7.  Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips.

Authors:  René Gödde; Klaus Rohde; Christian Becker; Mahammad R Toliat; Patricia Entz; Anita Suk; Norbert Müller; Eckhart Sindern; Michael Haupts; Sebastian Schimrigk; Peter Nürnberg; Jörg T Epplen
Journal:  J Mol Med (Berl)       Date:  2005-03-16       Impact factor: 4.599

8.  Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Authors:  Ann E Davidson; Fazeel M Siddiqui; Michael A Lopez; Peter Lunt; Heather A Carlson; Brian E Moore; Seth Love; Donald E Born; Helen Roper; Anirban Majumdar; Suman Jayadev; Hunter R Underhill; Corrine O Smith; Maja von der Hagen; Angela Hubner; Philip Jardine; Andria Merrison; Elizabeth Curtis; Thomas Cullup; Heinz Jungbluth; Mary O Cox; Thomas L Winder; Hossam Abdel Salam; Jun Z Li; Steven A Moore; James J Dowling
Journal:  Brain       Date:  2013-02       Impact factor: 13.501

Review 9.  Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

Authors:  Julien Ochala
Journal:  J Mol Med (Berl)       Date:  2008-06-24       Impact factor: 4.599

10.  Rescue of skeletal muscle alpha-actin-null mice by cardiac (fetal) alpha-actin.

Authors:  Kristen J Nowak; Gianina Ravenscroft; Connie Jackaman; Aleksandra Filipovska; Stefan M Davies; Esther M Lim; Sarah E Squire; Allyson C Potter; Elizabeth Baker; Sophie Clément; Caroline A Sewry; Victoria Fabian; Kelly Crawford; James L Lessard; Lisa M Griffiths; John M Papadimitriou; Yun Shen; Grant Morahan; Anthony J Bakker; Kay E Davies; Nigel G Laing
Journal:  J Cell Biol       Date:  2009-05-25       Impact factor: 10.539
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