Stefano Tozza

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 220 citations · Full text

Medicine, Molecular Genetics, Neurology +13

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +11

<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

Riccardo Curró, Alessandro Salvalaggio, Stefano Tozza et al. · Brain · 2021 · 133 citations · Full text

Medicine, Neurology, Neuroscience +15

Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population

Fiore Manganelli, Stefano Tozza, Chiara Pisciotta et al. · Journal of the Peripheral Nervous System · 2014 · 78 citations

Life Sciences, Genetics, Neurology +16

Nerve conduction velocity in <scp>CMT</scp>1A: what else can we tell?

Fiore Manganelli, Chiara Pisciotta, Mary M. Reilly et al. · European Journal of Neurology · 2016 · 62 citations · Full text

Medicine, Neurology, Neuroscience +16