A. Tonelli

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

Claudia Crimella, Cinzia Baschirotto, Alessia Arnoldi et al. · Clinical Genetics · 2011 · 161 citations

Life Sciences, Genetics, Neurology +16

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

Romina Romaniello, Claudio Zucca, A. Tonelli et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 64 citations

Life Sciences, Genetics, Neurology +17

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

Claudia Crimella, A. Tonelli, Giovanni Airoldi et al. · Journal of Medical Genetics · 2010 · 49 citations

Life Sciences, Genetics, Molecular Genetics +10

Novel splice‐site mutations and a large intragenic deletion in <i>PLA2G6</i> associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy

A. Tonelli, Romina Romaniello, Rita Grasso et al. · Clinical Genetics · 2010 · 34 citations

Medicine, Neurology, Neuroscience +17

The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine

A. Gallanti, Veronica Cardin, A. Tonelli et al. · Neurological Sciences · 2011 · 15 citations

Life Sciences, Genetics, Neurology +11