Literature DB >> 18789687

TPM2 mutation.

Almuth Brandis, Eleonora Aronica, Hans H Goebel.   

Abstract

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Year:  2008        PMID： 18789687     DOI： 10.1016/j.nmd.2008.07.007

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  7 in total

1.  Approach to the diagnosis of congenital myopathies.

Authors:  Kathryn N North; Ching H Wang; Nigel Clarke; Heinz Jungbluth; Mariz Vainzof; James J Dowling; Kimberly Amburgey; Susana Quijano-Roy; Alan H Beggs; Caroline Sewry; Nigel G Laing; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2013-11-18       Impact factor: 4.296

2.  Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

Authors:  Teresa Esposito; Simone Sampaolo; Giuseppe Limongelli; Antonio Varone; Daniela Formicola; Daria Diodato; Olimpia Farina; Filomena Napolitano; Giuseppe Pacileo; Fernando Gianfrancesco; Giuseppe Di Iorio
Journal:  Orphanet J Rare Dis       Date:  2013-06-21       Impact factor: 4.123

Review 3.  Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors:  Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2017-11-15       Impact factor: 2.638

4.  A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

Authors:  Magdalena Mroczek; Dagmara Kabzińska; Krystyna H Chrzanowska; Maciej Pronicki; Andrzej Kochański
Journal:  J Appl Genet       Date:  2016-10-10       Impact factor: 3.240

Review 5.  Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Authors:  Tokunbor A Lawal; Joshua J Todd; Jessica W Witherspoon; Carsten G Bönnemann; James J Dowling; Susan L Hamilton; Katherine G Meilleur; Robert T Dirksen
Journal:  Skelet Muscle       Date:  2020-11-16       Impact factor: 4.912

6.  Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin.

Authors:  Olga E Karpicheva; Armen O Simonyan; Nikita A Rysev; Charles S Redwood; Yurii S Borovikov
Journal:  Int J Mol Sci       Date:  2020-10-14       Impact factor: 5.923

7.  Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.

Authors:  Saba Abdul-Hussein; Karin Rahl; Ali-Reza Moslemi; Homa Tajsharghi
Journal:  PLoS One       Date:  2013-09-10       Impact factor: 3.240
  7 in total

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