Literature DB >> 24569025

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Stephan Lange1, Lars Edström2, Bjarne Udd3, Mathias Gautel4.   

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Year:  2014        PMID： 24569025      PMCID： PMC4032095          DOI： 10.1093/brain/awu033

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  6 in total

1.  Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Authors:  Carola Hedberg; Atle Melberg; Kathe Dahlbom; Anders Oldfors
Journal:  Brain       Date:  2013-11-14       Impact factor: 13.501

2.  Hereditary myopathy with early respiratory failure: occurrence in various populations.

Authors:  Johanna Palmio; Anni Evilä; Françoise Chapon; Giorgio Tasca; Fengqing Xiang; Björn Brådvik; Bruno Eymard; Andoni Echaniz-Laguna; Jocelyn Laporte; Mikko Kärppä; Ibrahim Mahjneh; Rosaline Quinlivan; Pascal Laforêt; Maxwell Damian; Andres Berardo; Ana Lia Taratuto; Jose Antonio Bueri; Johanna Tommiska; Taneli Raivio; Matthias Tuerk; Philipp Gölitz; Frederic Chevessier; Caroline Sewry; Fiona Norwood; Carola Hedberg; Rolf Schröder; Lars Edström; Anders Oldfors; Peter Hackman; Bjarne Udd
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-04-19       Impact factor: 10.154

3.  The kinase domain of titin controls muscle gene expression and protein turnover.

Authors:  Stephan Lange; Fengqing Xiang; Andrey Yakovenko; Anna Vihola; Peter Hackman; Elena Rostkova; Jakob Kristensen; Birgit Brandmeier; Gereon Franzen; Birgitta Hedberg; Lars Gunnar Gunnarsson; Simon M Hughes; Sylvie Marchand; Thomas Sejersen; Isabelle Richard; Lars Edström; Elisabeth Ehler; Bjarne Udd; Mathias Gautel
Journal:  Science       Date:  2005-03-31       Impact factor: 47.728

4.  Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

Authors:  Claire Chauveau; Carsten G Bonnemann; Cedric Julien; Ay Lin Kho; Harold Marks; Beril Talim; Philippe Maury; Marie Christine Arne-Bes; Emmanuelle Uro-Coste; Alexander Alexandrovich; Anna Vihola; Sebastian Schafer; Beth Kaufmann; Livija Medne; Norbert Hübner; A Reghan Foley; Mariarita Santi; Bjarne Udd; Haluk Topaloglu; Steven A Moore; Michael Gotthardt; Mark E Samuels; Mathias Gautel; Ana Ferreiro
Journal:  Hum Mol Genet       Date:  2013-10-08       Impact factor: 6.150

5.  Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Authors:  Gerald Pfeffer; Helen Griffin; Angela Pyle; Rita Horvath; Patrick F Chinnery
Journal:  Brain       Date:  2013-11-21       Impact factor: 13.501

6.  Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

Authors:  Gerald Pfeffer; Rita Barresi; Ian J Wilson; Steven A Hardy; Helen Griffin; Judith Hudson; Hannah R Elliott; Aravind V Ramesh; Aleksandar Radunovic; John B Winer; Sujit Vaidya; Ashok Raman; Mark Busby; Maria E Farrugia; Alec Ming; Chris Everett; Hedley C A Emsley; Rita Horvath; Volker Straub; Kate Bushby; Hanns Lochmüller; Patrick F Chinnery; Anna Sarkozy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-03-13       Impact factor: 10.154
  6 in total
  5 in total

Review 1.  Mechanotransduction in cardiac hypertrophy and failure.

Authors:  Robert C Lyon; Fabian Zanella; Jeffrey H Omens; Farah Sheikh
Journal:  Circ Res       Date:  2015-04-10       Impact factor: 17.367

Review 2.  Increasing Role of Titin Mutations in Neuromuscular Disorders.

Authors:  Marco Savarese; Jaakko Sarparanta; Anna Vihola; Bjarne Udd; Peter Hackman
Journal:  J Neuromuscul Dis       Date:  2016-08-30

3.  Making sense of missense variants in TTN-related congenital myopathies.

Authors:  Heinz Jungbluth; Mathias Gautel; Martin Rees; Roksana Nikoopour; Atsushi Fukuzawa; Ay Lin Kho; Miguel A Fernandez-Garcia; Elizabeth Wraige; Istvan Bodi; Charu Deshpande; Özkan Özdemir; Hülya-Sevcan Daimagüler; Mark Pfuhl; Mark Holt; Birgit Brandmeier; Sarah Grover; Joël Fluss; Cheryl Longman; Maria Elena Farrugia; Emma Matthews; Michael Hanna; Francesco Muntoni; Anna Sarkozy; Rahul Phadke; Ros Quinlivan; Emily C Oates; Rolf Schröder; Christian Thiel; Jens Reimann; Nicol Voermans; Corrie Erasmus; Erik-Jan Kamsteeg; Chaminda Konersman; Carla Grosmann; Shane McKee; Sandya Tirupathi; Steven A Moore; Ekkehard Wilichowski; Elke Hobbiebrunken; Gabriele Dekomien; Isabelle Richard; Peter Van den Bergh; Cristina Domínguez-González; Sebahattin Cirak; Ana Ferreiro
Journal:  Acta Neuropathol       Date:  2021-01-15       Impact factor: 17.088

4.  A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.

Authors:  Yasuteru Sano; Satoko Ota; Mariko Oishi; Masaya Honda; Masatoshi Omoto; Motoharu Kawai; Mariko Okubo; Ichizo Nishino; Takashi Kanda
Journal:  Intern Med       Date:  2021-10-19       Impact factor: 1.282

5.  Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

Authors:  Gerald Pfeffer; Patrick F Chinnery
Journal:  Brain       Date:  2014-02-27       Impact factor: 13.501
  5 in total

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