Identification and characterization of three novel mutations in theCASQ1gene in four patients with tubular aggregate myopathy-Reference-Cited by-同舟云学术

Identification and characterization of three novel mutations in theCASQ1gene in four patients with tubular aggregate myopathy

Published:2017-09-26 Issue:12 Volume:38 Page:1761-1773
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Barone Virginia¹,Del Re Valeria¹,Gamberucci Alessandra¹,Polverino Valentina¹,Galli Lucia²,Rossi Daniela¹²,Costanzi Elisa³,Toniolo Luana⁴⁵,Berti Gianna⁶,Malandrini Alessandro⁶,Ricci Giulia⁷,Siciliano Gabriele⁷,Vattemi Gaetano⁸,Tomelleri Giuliano⁸,Pierantozzi Enrico¹,Spinozzi Simone¹,Volpi Nila⁶,Fulceri Rosella¹,Battistutta Roberto³,Reggiani Carlo⁴⁵,Sorrentino Vincenzo¹²^ORCID

Affiliation:

1. Department of Molecular and Developmental Medicine; Molecular Medicine Section; University of Siena; Siena Italy

2. Azienda Ospedaliera Universitaria Senese; Siena Italy

3. Department of Chemical Sciences; University of Padova; Padova Italy

4. Department of Biomedical Sciences; University of Padova; Padova Italy

5. CNR; Institute of Neuroscience; Padova Italy

6. Department of Medical; Surgical and Neurological Sciences; University of Siena; Siena Italy

7. Department of Clinical and Experimental Medicine; University of Pisa; Pisa Italy

8. Department of Neurological Neurosciences; Biomedicine and Movement Sciences; Section of Clinical Neurology; University of Verona; Verona Italy

Funder

Italian Telethon ONLUS Foundation

Ministry of Research (MIUR), FIR 2013

ToRSADE project

Ministero della Salute

Ministry of Research (MIUR), PRIN 2015

Fondazione Telethon

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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4. QueryOR: A comprehensive web platform for genetic variant analysis and prioritization;Bertoldi;BMC Bioinformatics,2017

5. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy;Böhm;American Journal of Human Genetics,2013

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