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List of works by Simone Spinozzi

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

scientific article

Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice.

scientific article

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

scientific article published on 11 September 2017

Nexilin Is a New Component of Junctional Membrane Complexes Required for Cardiac T-Tubule Formation

scientific article published on 15 April 2019

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