Literature DB >> 23015096

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.

Giorgio Tasca1, Fabiana Fattori, Enzo Ricci, Mauro Monforte, Valentina Rizzo, Eugenio Mercuri, Enrico Bertini, Gabriella Silvestri.   

Abstract

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Year:  2012        PMID： 23015096     DOI： 10.1007/s00401-012-1049-6

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  5 in total

1.  Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

Authors:  Mauro Monforte; Guido Primiano; Gabriella Silvestri; Massimiliano Mirabella; Marco Luigetti; Cristina Cuccagna; Enzo Ricci; Serenella Servidei; Giorgio Tasca
Journal:  J Neurol       Date:  2018-01-22       Impact factor: 4.849

2.  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

3.  Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Authors:  Fabiana Fattori; Lorenzo Maggi; Claudio Bruno; Denise Cassandrini; Valentina Codemo; Michela Catteruccia; Giorgio Tasca; Angela Berardinelli; Francesca Magri; Marika Pane; Anna Rubegni; Lucio Santoro; Lucia Ruggiero; Patrizio Fiorini; Antonella Pini; Tiziana Mongini; Sonia Messina; Giacomo Brisca; Irene Colombo; Guja Astrea; Chiara Fiorillo; Cinzia Bragato; Isabella Moroni; Elena Pegoraro; Maria Rosaria D'Apice; Enrico Alfei; Marina Mora; Lucia Morandi; Alice Donati; Anni Evilä; Anna Vihola; Bjarne Udd; Pia Bernansconi; Eugenio Mercuri; Filippo Maria Santorelli; Enrico Bertini; Adele D'Amico
Journal:  J Neurol       Date:  2015-05-10       Impact factor: 4.849

4.  Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Authors:  Giorgio Tasca; Adele D'Amico; Mauro Monforte; Aleksandra Nadaj-Pakleza; Marc Vialle; Fabiana Fattori; John Vissing; Enzo Ricci; Enrico Bertini
Journal:  Neuromuscul Disord       Date:  2015-07-17       Impact factor: 4.296

5.  Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Authors:  Minttu Marttila; Vilma-Lotta Lehtokari; Steven Marston; Tuula A Nyman; Christine Barnerias; Alan H Beggs; Enrico Bertini; Ozge Ceyhan-Birsoy; Pascal Cintas; Marion Gerard; Brigitte Gilbert-Dussardier; Jacob S Hogue; Cheryl Longman; Bruno Eymard; Moshe Frydman; Peter B Kang; Lars Klinge; Hanna Kolski; Hans Lochmüller; Laurent Magy; Véronique Manel; Michèle Mayer; Eugenio Mercuri; Kathryn N North; Sylviane Peudenier-Robert; Helena Pihko; Frank J Probst; Ricardo Reisin; Willie Stewart; Ana Lia Taratuto; Marianne de Visser; Ekkehard Wilichowski; John Winer; Kristen Nowak; Nigel G Laing; Tom L Winder; Nicole Monnier; Nigel F Clarke; Katarina Pelin; Mikaela Grönholm; Carina Wallgren-Pettersson
Journal:  Hum Mutat       Date:  2014-05-01       Impact factor: 4.878
  5 in total

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