List of works by Raffaella Brugnoni

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

scientific article published on 6 June 2013

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

scientific article published on 9 October 2017

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

scientific article published on 16 February 2010

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

scientific article published on 20 June 2016

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