Literature DB >> 24231549

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

Carola Hedberg1, Atle Melberg, Kathe Dahlbom, Anders Oldfors.   

Abstract

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Year:  2013        PMID： 24231549     DOI： 10.1093/brain/awt305

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


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  10 in total

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

Authors:  Stephan Lange; Lars Edström; Bjarne Udd; Mathias Gautel
Journal:  Brain       Date:  2014-02-24       Impact factor: 13.501

Review 2.  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 3.  Diaphragm contractile weakness due to reduced mechanical loading: role of titin.

Authors:  Robbert J van der Pijl; Henk L Granzier; Coen A C Ottenheijm
Journal:  Am J Physiol Cell Physiol       Date:  2019-05-01       Impact factor: 4.249

Review 4.  Diagnosis of muscle diseases presenting with early respiratory failure.

Authors:  Gerald Pfeffer; Marcus Povitz; G John Gibson; Patrick F Chinnery
Journal:  J Neurol       Date:  2014-11-07       Impact factor: 4.849

5.  A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Authors:  Gerald Pfeffer; Nyamkhishig Sambuughin; Montse Olivé; Felix Tyndel; Camilo Toro; Lev G Goldfarb; Patrick F Chinnery
Journal:  Neuromuscul Disord       Date:  2013-12-11       Impact factor: 4.296

Review 6.  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

7.  The Axial Alignment of Titin on the Muscle Thick Filament Supports Its Role as a Molecular Ruler.

Authors:  Pauline Bennett; Martin Rees; Mathias Gautel
Journal:  J Mol Biol       Date:  2020-07-01       Impact factor: 5.469

8.  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

9.  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

10.  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
  10 in total

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