Publications by authors named "Alessandra Tonelli"

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A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
Cinzia Costa, Paolo Prontera, Paola Sarchielli, Alessandra Tonelli, Maria Teresa Bassi

Cephalalgia· January 2014

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Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
Romina Romaniello, Filippo Arrigoni, Andrea Citterio, Alessandra Tonelli, Cinzia Sforzini

J Child Neurol· December 2013

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A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
Romina Romaniello, Alessandra Tonelli, Filippo Arrigoni, Cinzia Baschirotto, Fabio Triulzi

Dev Med Child Neurol· August 2012

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A case of familial hemiplegic migraine associated with a novel ATP1A2 gene mutation.
Angela De Cunto, Marco Bensa, Alessandra Tonelli

Pediatr Neurol· August 2012

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SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.
Linda Mannini, Stefania Menga, Alessandra Tonelli, Silvia Zanotti, Maria Teresa Bassi

Am J Med Genet A· January 2012

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A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
Romina Romaniello, Claudio Zucca, Alessandra Tonelli, Sara Bonato, Cinzia Baschirotto

J Neurol Neurosurg Psychiatry· August 2010

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Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.
Giovanni Airoldi, Andrea Guidarelli, Orazio Cantoni, Chris Panzeri, Chiara Vantaggiato, Alessandra Tonelli

Neurogenetics· February 2010

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Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.
Renato Borgatti, Susan Marelli, Laura Bernardini, Antonio Novelli, Anna Cavallini, Alessandra Tonelli

Clin Genet· December 2009

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A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
Chiara Vantaggiato, Francesca Redaelli, Sestina Falcone, Cristiana Perrotta, Alessandra Tonelli

Hum Mutat· July 2009

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A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.
Andrea Gallanti, Alessandra Tonelli, Veronica Cardin, Gennaro Bussone, Nereo Bresolin

J Neurol Sci· October 2008

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A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli

Hum Mutat· April 2008

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Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
Francesca Crippa, Chris Panzeri, Andrea Martinuzzi, Alessia Arnoldi, Francesca Redaelli, Alessandra Tonelli

Arch Neurol· May 2006

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Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
Alessandra Tonelli, Maria Grazia D'Angelo, Roberto Salati, Laura Villa, Chiara Germinasi

J Neurol Sci· February 2006

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