Sara Bonato

Expanding the genotypic and phenotypic spectrum of Beta-propeller potein-associated neurodegeneration.

Authors:

Edoardo Monfrini Pierluigi Tocco Sara Bonato Mattia Tosi Valentina Melzi Emanuele Frattini Giulia Franco Stefania Corti Giacomo Pietro Comi Nereo Bresolin Alessio Di Fonzo

Eur J Neurol 2020 Dec 12. Epub 2020 Dec 12.

Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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December 2020

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.

Authors:

Davide Villa Claudia Cinnante Gloria Valcamonica Giulia Manenti Silvia Lanfranconi Annalisa Colombi Isabella Ghione Maria Cristina Saetti Mario D'Amico Sara Bonato Nereo Bresolin Giacomo Pietro Comi Dario Ronchi

BMC Neurol 2020 Aug 26;20(1):316. Epub 2020 Aug 26.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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August 2020

Safety and efficacy of rt-PA treatment for acute stroke in pseudoxanthoma elasticum: the first report.

Authors:

Silvia Lanfranconi Isabella Ghione Gloria Valcamonica Stefania Paola Corti Sara Bonato Nereo Bresolin

J Thromb Thrombolysis 2021 Jan;51(1):176-179

Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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January 2021

Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.

Authors:

Dario Ronchi Edoardo Monfrini Sara Bonato Veronica Mancinelli Claudia Cinnante Sabrina Salani Andreina Bordoni Patrizia Ciscato Francesco Fortunato Marianna Villa Alessio Di Fonzo Stefania Corti Nereo Bresolin Giacomo P Comi

Ann Clin Transl Neurol 2020 05 24;7(5):839-845. Epub 2020 Apr 24.

Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

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May 2020

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

Authors:

Giacomo Bitetto Dario Ronchi Sara Bonato Alessandra Pittaro Giacomo Monzio Compagnoni Andreina Bordoni Sabrina Salani Emanuele Frattini Gianluca Lopez Fulvia Milena Cribiù Stefania Corti Giacomo P Comi Nereo Bresolin Alessio Di Fonzo

Hum Mol Genet 2019 12;28(23):3921-3927

Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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December 2019

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.

Authors:

Edoardo Monfrini Letizia Straniero Sara Bonato Giacomo Monzio Compagnoni Andreina Bordoni Robertino Dilena Paola Rinchetti Rosamaria Silipigni Dario Ronchi Stefania Corti Giacomo P Comi Nereo Bresolin Stefano Duga Alessio Di Fonzo

Parkinsonism Relat Disord 2019 06 1;63:66-72. Epub 2019 Mar 1.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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June 2019

Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.

Authors:

Gianluca Ardolino Tommaso Bocci Martina Nigro Maurizio Vergari Alessio Di Fonzo Sara Bonato Filippo Cogiamanian Francesca Cortese Ilaria Cova Sergio Barbieri Alberto Priori

J Spinal Cord Med 2018 Dec 3:1-8. Epub 2018 Dec 3.

d Neurology Unit , Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico , Milan , Italy.

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December 2018

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

Authors:

Michela Ripolone Valeria Lucchini Dario Ronchi Gigliola Fagiolari Andreina Bordoni Francesco Fortunato Stefania Mondello Sara Bonato Mirella Meregalli Yvan Torrente Stefania Corti Giacomo P Comi Maurizio Moggio Monica Sciacco

J Neurosci Res 2018 09;96(9):1576-1585

Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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September 2018

Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin's Lymphoma: A Case Report.

Authors:

Linda Borellini Silvia Lanfranconi Sara Bonato Ilaria Trezzi Giulia Franco Lorella Torretta Nereo Bresolin Alessio Barnaba Di Fonzo

Front Neurol 2017 10;8:401. Epub 2017 Aug 10.

Neurology Department, IRCCS Fondazione Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.

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August 2017

Mutational analysis of COQ2 in patients with MSA in Italy.

Neurobiol Aging 2016 09 7;45:213.e1-213.e2. Epub 2016 Jun 7.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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September 2016

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.

Authors:

Aurelio Reyes Laura Melchionda Alessia Nasca Franco Carrara Eleonora Lamantea Alice Zanolini Costanza Lamperti Mingyan Fang Jianguo Zhang Dario Ronchi Sara Bonato Gigliola Fagiolari Maurizio Moggio Daniele Ghezzi Massimo Zeviani

Am J Hum Genet 2015 Jul 18;97(1):186-93. Epub 2015 Jun 18.

Mitochondrial Biology Unit, Medical Research Council, Cambridge CB2 0XY, UK. Electronic address:

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July 2015

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Authors:

Daniela Di Bella Davide Pareyson Mario Savoiardo Laura Farina Claudia Ciano Serena Caldarazzo Anna Sagnelli Sara Bonato Simone Nava Nereo Bresolin Gioacchino Tedeschi Franco Taroni Ettore Salsano

Neurology 2014 Sep 15;83(13):1217-8. Epub 2014 Aug 15.

From the Fondazione IRCCS Istituto Neurologico Carlo Besta (D.D.B., D.P., M.S., L.F., C.C., S.C., A.S., S.N., F.T., E.S.), Milan; University of Milan (S.B., N.B.); Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (S.B., N.B.), Milan; the Scientific Institute IRCCS E. Medea (N.B.), Bosisio Parini; and the Second University of Naples (G.T.), Italy.

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September 2014

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15.

Authors:

Chiara Vantaggiato Claudia Crimella Giovanni Airoldi Roman Polishchuk Sara Bonato Erika Brighina Marina Scarlato Olimpia Musumeci Antonio Toscano Andrea Martinuzzi Filippo Maria Santorelli Andrea Ballabio Nereo Bresolin Emilio Clementi Maria Teresa Bassi

Brain 2013 Oct 11;136(Pt 10):3119-39. Epub 2013 Sep 11.

1 Scientific Institute IRCCS E. Medea, Laboratory of Molecular Biology, 23842 Bosisio Parini, Lecco, Italy.

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October 2013

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.

Authors:

Francesca Magri Roberto Del Bo Maria Grazia D'Angelo Monica Sciacco Sandra Gandossini Alessandra Govoni Laura Napoli Patrizia Ciscato Francesco Fortunato Erika Brighina Sara Bonato Andreina Bordoni Valeria Lucchini Stefania Corti Maurizio Moggio Nereo Bresolin Giacomo Pietro Comi

Neuromuscul Disord 2012 Nov 27;22(11):934-43. Epub 2012 Jun 27.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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November 2012

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: evidence from a safety study with pilot efficacy measures in adult dystrophic patients.

Authors:

Maria Grazia D'Angelo Sandra Gandossini Filippo Martinelli Boneschi Clara Sciorati Sara Bonato Erika Brighina Giacomo Pietro Comi Anna Carla Turconi Francesca Magri Giuseppe Stefanoni Silvia Brunelli Nereo Bresolin Dario Cattaneo Emilio Clementi

Pharmacol Res 2012 Apr 25;65(4):472-9. Epub 2012 Jan 25.

E Medea Scientific Institute, Bosisio Parini, Italy.

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April 2012

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

J Neurol 2011 Sep 12;258(9):1610-23. Epub 2011 Mar 12.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy.

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September 2011

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

Authors:

Romina Romaniello Claudio Zucca Alessandra Tonelli Sara Bonato Cinzia Baschirotto Nicoletta Zanotta Roberta Epifanio Andrea Righini Nereo Bresolin Maria T Bassi Renato Borgatti

J Neurol Neurosurg Psychiatry 2010 Aug;81(8):840-3

Department Child Neuropsychiatry and Neurorehabilitation IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy.

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August 2010

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

Authors:

Giovanni Airoldi Andrea Guidarelli Orazio Cantoni Chris Panzeri Chiara Vantaggiato Sara Bonato Maria Grazia D'Angelo Sestina Falcone Clara De Palma Alessandra Tonelli Claudia Crimella Sara Bondioni Nereo Bresolin Emilio Clementi Maria Teresa Bassi

Neurogenetics 2010 Feb 11;11(1):91-100. Epub 2009 Jul 11.

Laboratory of Molecular Biology, E. Medea Scientific Institute, Via d. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy.

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February 2010

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study.

Authors:

Roberta Virgilio Dario Ronchi Andreina Bordoni Elisa Fassone Sara Bonato Chiara Donadoni Giuseppe Torgano Maurizio Moggio Stefania Corti Nereo Bresolin Giacomo P Comi

J Neurol Sci 2009 Jun 10;281(1-2):85-92. Epub 2009 Mar 10.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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June 2009

Gait pattern in Duchenne muscular dystrophy.

Authors:

Maria Grazia D'Angelo Matteo Berti Luigi Piccinini Marianna Romei Michela Guglieri Sara Bonato Alessandro Degrate Anna Carla Turconi Nereo Bresolin

Gait Posture 2009 Jan 25;29(1):36-41. Epub 2008 Jul 25.

IRCCS E. Medea, NeuroRehabilitation Department, via don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy.

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January 2009

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