Literature DB >> 24384345

Titinopathy in a Canadian family sharing the British founder haplotype.

Gerald Pfeffer, Jeffrey T Joseph, A Micheil Innes, J Bevan Frizzell, Ian J Wilson, A Keith W Brownell, Patrick F Chinnery.   

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Year:  2014        PMID： 24384345      PMCID： PMC6558278          DOI： 10.1017/s0317167100016346

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


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  10 in total

1.  Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure.

Authors:  Daniel Birchall; Maja von der Hagen; David Bates; Kate M D Bushby; Patrick F Chinnery
Journal:  Neuromuscul Disord       Date:  2005-10       Impact factor: 4.296

2.  Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

Authors:  Rumiko Izumi; Tetsuya Niihori; Yoko Aoki; Naoki Suzuki; Masaaki Kato; Hitoshi Warita; Toshiaki Takahashi; Maki Tateyama; Takeshi Nagashima; Ryo Funayama; Koji Abe; Keiko Nakayama; Masashi Aoki; Yoichi Matsubara
Journal:  J Hum Genet       Date:  2013-02-28       Impact factor: 3.172

3.  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

4.  Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Authors:  Monica Ohlsson; Carola Hedberg; Björn Brådvik; Christopher Lindberg; Homa Tajsharghi; Olof Danielsson; Atle Melberg; Bjarne Udd; Tommy Martinsson; Anders Oldfors
Journal:  Brain       Date:  2012-05-09       Impact factor: 13.501

5.  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

Review 6.  Neuromuscular imaging in inherited muscle diseases.

Authors:  Mike P Wattjes; Rudolf A Kley; Dirk Fischer
Journal:  Eur Radiol       Date:  2010-04-27       Impact factor: 5.315

7.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

8.  Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Authors:  Camilo Toro; Montse Olivé; Marinos C Dalakas; Kumaraswami Sivakumar; Juan M Bilbao; Felix Tyndel; Noemí Vidal; Eva Farrero; Nyamkhishig Sambuughin; Lev G Goldfarb
Journal:  BMC Neurol       Date:  2013-03-20       Impact factor: 2.474

9.  Titin mutation segregates with hereditary myopathy with early respiratory failure.

Authors:  Gerald Pfeffer; Hannah R Elliott; Helen Griffin; Rita Barresi; James Miller; Julie Marsh; Anni Evilä; Anna Vihola; Peter Hackman; Volker Straub; David J Dick; Rita Horvath; Mauro Santibanez-Koref; Bjarne Udd; Patrick F Chinnery
Journal:  Brain       Date:  2012-05-09       Impact factor: 13.501

10.  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
  10 in total
  1 in total

1.  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
  1 in total

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