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Raffaella Brugnoni

University of Milan

23

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610

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Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

2020 Neuromuscular Disorders
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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

2020 Frontiers in Neurology
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Salbutamol as effective treatment in slow-channel syndrome- first report.

2020 Neurological Sciences
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Italian recommendations for diagnosis and management of congenital myasthenic syndromes

2019 Neurological Sciences
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Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

2016 The FASEB Journal
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G.P.136

2014 Neuromuscular Disorders
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Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

2013 Journal of Neurology
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A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

2013 Journal of Human Genetics
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Is the CACNA1A gene involved in familial migraine with aura

2002 Neurological Sciences
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Identification of Three Novel Mutations in the Major Human Skeletal Muscle Chloride Channel Gene (CLCN1), Causing Myotonia Congenita

1999 Human Mutation
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Citations (21)