Publications Authored by Cinzia Tiloca

PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival.

Authors:

Federico Verde Cinzia Tiloca Claudia Morelli Alberto Doretti Barbara Poletti Luca Maderna Stefano Messina Davide Gentilini Isabella Fogh Antonia Ratti Vincenzo Silani Nicola Ticozzi

Neurol Sci 2019 Jul 22;40(7):1469-1473. Epub 2019 Mar 22.

Department of Neurology - Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Piazzale Brescia 20, 20149, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-019-03834-2	DOI Listing

July 2019

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2.

Authors:

Hamid Hamzeiy Doruk Savaş Ceren Tunca Nesli Ece Şen Aslı Gündoğdu Eken Irmak Şahbaz Daniela Calini Cinzia Tiloca Nicola Ticozzi Antonia Ratti Vincenzo Silani A Nazlı Başak

Neurodegener Dis 2018 9;18(1):38-48. Epub 2018 Feb 9.

Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey.

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http://dx.doi.org/10.1159/000486201	DOI Listing

January 2019

Response to the commentary "The effect of C9orf72 intermediate repeat expansions in neurodegenerative and autoimmune diseases" by Biasiotto G and Zanella I..

Authors:

Cinzia Tiloca Melissa Sorosina Federica Esposito Silvia Peroni Claudia Colombrita Nicola Ticozzi Antonia Ratti Filippo Martinelli-Boneschi Vincenzo Silani

Mult Scler Relat Disord 2019 01 14;27:79-80. Epub 2018 Oct 14.

Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, 20149 Milan, Italy; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, 20122 Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S22110348183036	Publisher Site
http://dx.doi.org/10.1016/j.msard.2018.10.007	DOI Listing

January 2019

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Neurobiol Aging 2018 11 25;71:266.e1-266.e10. Epub 2018 Jun 25.

United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183021	Publisher Site
http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.015	DOI Listing

November 2018

No C9orf72 repeat expansion in patients with primary progressive multiple sclerosis.

Authors:

Cinzia Tiloca Melissa Sorosina Federica Esposito Silvia Peroni Claudia Colombrita Nicola Ticozzi Antonia Ratti Filippo Martinelli-Boneschi Vincenzo Silani

Mult Scler Relat Disord 2018 Oct 1;25:192-195. Epub 2018 Aug 1.

Istituto Auxologico Italiano, IRCCS, Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Milan 20145, Italy; Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan 20122, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22110348183026	Publisher Site
http://dx.doi.org/10.1016/j.msard.2018.07.047	DOI Listing

October 2018

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.

Authors:

Lucia Corrado Cinzia Tiloca Clarissa Locci Alessandra Bagarotti Hamid Hamzeiy Claudia Colombrita Fabiola De Marchi Nadia Barizzone Diego Cotella Nicola Ticozzi Letizia Mazzini Ayse Nazli Basak Antonia Ratti Vincenzo Silani Sandra D'alfonso

Amyotroph Lateral Scler Frontotemporal Degener 2018 08 28;19(5-6):426-431. Epub 2018 Feb 28.

a Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases , Universita' del Piemonte Orientale , Novara , Italy.

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http://dx.doi.org/10.1080/21678421.2018.1440407	DOI Listing

August 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:

Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896	PMC

March 2018

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

Front Mol Neurosci 2018 28;11:64. Epub 2018 Feb 28.

Dulbecco Telethon Institute, CIBIO, Università degli Studi di Trento, Trento, Italy.

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http://dx.doi.org/10.3389/fnmol.2018.00064	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835904	PMC

February 2018

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

Hum Mutat 2017 11 3;38(11):1534-1541. Epub 2017 Aug 3.

Institute of Human Genetics, Medical Centre Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/humu.23295	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599399	PMC

November 2017

The validation of the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS).

Authors:

Barbara Poletti Federica Solca Laura Carelli Fabiana Madotto Annalisa Lafronza Andrea Faini Alessia Monti Stefano Zago Daniela Calini Cinzia Tiloca Alberto Doretti Federico Verde Antonia Ratti Nicola Ticozzi Sharon Abrahams Vincenzo Silani

Amyotroph Lateral Scler Frontotemporal Degener 2016 Oct - Nov;17(7-8):489-498. Epub 2016 May 24.

a Department of Neurology and Laboratory of Neuroscience - IRCCS Istituto Auxologico Italiano , Milan , Italy.

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http://dx.doi.org/10.1080/21678421.2016.1183679	DOI Listing

October 2017

Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.

Authors:

Kornélia Tripolszki Bernadett Csányi Dóra Nagy Antonia Ratti Cinzia Tiloca Vincenzo Silani Éva Kereszty Nóra Török László Vécsei József I Engelhardt Péter Klivényi Nikoletta Nagy Márta Széll

Neurobiol Aging 2017 05 29;53:195.e1-195.e5. Epub 2017 Jan 29.

Department of Medical Genetics, University of Szeged, Szeged, Hungary; MTA SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.01.016	DOI Listing

May 2017

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Authors:

Bradley N Smith Simon D Topp Claudia Fallini Hideki Shibata Han-Jou Chen Claire Troakes Andrew King Nicola Ticozzi Kevin P Kenna Athina Soragia-Gkazi Jack W Miller Akane Sato Diana Marques Dias Maryangel Jeon Caroline Vance Chun Hao Wong Martina de Majo Wejdan Kattuah Jacqueline C Mitchell Emma L Scotter Nicholas W Parkin Peter C Sapp Matthew Nolan Peter J Nestor Michael Simpson Michael Weale Monkel Lek Frank Baas J M Vianney de Jong Anneloor L M A Ten Asbroek Alberto Garcia Redondo Jesús Esteban-Pérez Cinzia Tiloca Federico Verde Stefano Duga Nigel Leigh Hardev Pall Karen E Morrison Ammar Al-Chalabi Pamela J Shaw Janine Kirby Martin R Turner Kevin Talbot Orla Hardiman Jonathan D Glass Jacqueline De Belleroche Masatoshi Maki Stephen E Moss Christopher Miller Cinzia Gellera Antonia Ratti Safa Al-Sarraj Robert H Brown Vincenzo Silani John E Landers Christopher E Shaw

Sci Transl Med 2017 05;9(388)

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 125 Coldharbour Lane, Camberwell, SE5 9NU London, UK.

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http://dx.doi.org/10.1126/scitranslmed.aad9157	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599403	PMC

May 2017

Poly(GP) proteins are a useful pharmacodynamic marker for -associated amyotrophic lateral sclerosis.

Authors:

Tania F Gendron Jeannie Chew Jeannette N Stankowski Lindsey R Hayes Yong-Jie Zhang Mercedes Prudencio Yari Carlomagno Lillian M Daughrity Karen Jansen-West Emilie A Perkerson Aliesha O'Raw Casey Cook Luc Pregent Veronique Belzil Marka van Blitterswijk Lilia J Tabassian Chris W Lee Mei Yue Jimei Tong Yuping Song Monica Castanedes-Casey Linda Rousseau Virginia Phillips Dennis W Dickson Rosa Rademakers John D Fryer Beth K Rush Otto Pedraza Ana M Caputo Pamela Desaro Carla Palmucci Amelia Robertson Michael G Heckman Nancy N Diehl Edythe Wiggs Michael Tierney Laura Braun Jennifer Farren David Lacomis Shafeeq Ladha Christina N Fournier Leo F McCluskey Lauren B Elman Jon B Toledo Jennifer D McBride Cinzia Tiloca Claudia Morelli Barbara Poletti Federica Solca Alessandro Prelle Joanne Wuu Jennifer Jockel-Balsarotti Frank Rigo Christine Ambrose Abhishek Datta Weixing Yang Denitza Raitcheva Giovanna Antognetti Alexander McCampbell John C Van Swieten Bruce L Miller Adam L Boxer Robert H Brown Robert Bowser Timothy M Miller John Q Trojanowski Murray Grossman James D Berry William T Hu Antonia Ratti Bryan J Traynor Matthew D Disney Michael Benatar Vincenzo Silani Jonathan D Glass Mary Kay Floeter Jeffrey D Rothstein Kevin B Boylan Leonard Petrucelli

Sci Transl Med 2017 03;9(383)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1126/scitranslmed.aai7866	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576451	PMC

March 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Authors:

Kevin P Kenna Perry T C van Doormaal Annelot M Dekker Nicola Ticozzi Brendan J Kenna Frank P Diekstra Wouter van Rheenen Kristel R van Eijk Ashley R Jones Pamela Keagle Aleksey Shatunov William Sproviero Bradley N Smith Michael A van Es Simon D Topp Aoife Kenna Jack W Miller Claudia Fallini Cinzia Tiloca Russell L McLaughlin Caroline Vance Claire Troakes Claudia Colombrita Gabriele Mora Andrea Calvo Federico Verde Safa Al-Sarraj Andrew King Daniela Calini Jacqueline de Belleroche Frank Baas Anneke J van der Kooi Marianne de Visser Anneloor L M A Ten Asbroek Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress José Luis Muñoz-Blanco Tim M Strom Thomas Meitinger Karen E Morrison Giuseppe Lauria Kelly L Williams P Nigel Leigh Garth A Nicholson Ian P Blair Claire S Leblond Patrick A Dion Guy A Rouleau Hardev Pall Pamela J Shaw Martin R Turner Kevin Talbot Franco Taroni Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Jesús Esteban-Pérez Alberto García-Redondo Phillip Van Damme Wim Robberecht Adriano Chio Cinzia Gellera Carsten Drepper Michael Sendtner Antonia Ratti Jonathan D Glass Jesús S Mora Nazli A Basak Orla Hardiman Albert C Ludolph Peter M Andersen Jochen H Weishaupt Robert H Brown Ammar Al-Chalabi Vincenzo Silani Christopher E Shaw Leonard H van den Berg Jan H Veldink John E Landers

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030	PMC

September 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:

Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360	PMC

September 2016

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

JAMA Neurol 2016 07;73(7):812-20

Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.1114	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556366	PMC

July 2016

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

J Neurol 2015 May 18;262(5):1376-8. Epub 2015 Apr 18.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-015-7739-y	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614739	PMC

May 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Authors:

Bradley N Smith Nicola Ticozzi Claudia Fallini Athina Soragia Gkazi Simon Topp Kevin P Kenna Emma L Scotter Jason Kost Pamela Keagle Jack W Miller Daniela Calini Caroline Vance Eric W Danielson Claire Troakes Cinzia Tiloca Safa Al-Sarraj Elizabeth A Lewis Andrew King Claudia Colombrita Viviana Pensato Barbara Castellotti Jacqueline de Belleroche Frank Baas Anneloor L M A ten Asbroek Peter C Sapp Diane McKenna-Yasek Russell L McLaughlin Meraida Polak Seneshaw Asress Jesús Esteban-Pérez José Luis Muñoz-Blanco Michael Simpson Wouter van Rheenen Frank P Diekstra Giuseppe Lauria Stefano Duga Stefania Corti Cristina Cereda Lucia Corrado Gianni Sorarù Karen E Morrison Kelly L Williams Garth A Nicholson Ian P Blair Patrick A Dion Claire S Leblond Guy A Rouleau Orla Hardiman Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Hardev Pall Pamela J Shaw Martin R Turner Kevin Talbot Franco Taroni Alberto García-Redondo Zheyang Wu Jonathan D Glass Cinzia Gellera Antonia Ratti Robert H Brown Vincenzo Silani Christopher E Shaw John E Landers

Neuron 2014 Oct 22;84(2):324-31. Epub 2014 Oct 22.

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.09.027	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521390	PMC

October 2014

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.

Authors:

Nicola Ticozzi Cinzia Tiloca Daniela Calini Stella Gagliardi Alessandra Altieri Claudia Colombrita Cristina Cereda Antonia Ratti Gianni Pezzoli Barbara Borroni Stefano Goldwurm Alessandro Padovani Vincenzo Silani

Neurobiol Aging 2014 Apr 2;35(4):936.e13-7. Epub 2013 Oct 2.

Department of Neurology and Laboratory of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Auxologico Italiano, Milan, Italy; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.09.037	DOI Listing

April 2014

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Authors:

Isabella Fogh Antonia Ratti Cinzia Gellera Kuang Lin Cinzia Tiloca Valentina Moskvina Lucia Corrado Gianni Sorarù Cristina Cereda Stefania Corti Davide Gentilini Daniela Calini Barbara Castellotti Letizia Mazzini Giorgia Querin Stella Gagliardi Roberto Del Bo Francesca L Conforti Gabriele Siciliano Maurizio Inghilleri Francesco Saccà Paolo Bongioanni Silvana Penco Massimo Corbo Sandro Sorbi Massimiliano Filosto Alessandra Ferlini Anna M Di Blasio Stefano Signorini Aleksey Shatunov Ashley Jones Pamela J Shaw Karen E Morrison Anne E Farmer Philip Van Damme Wim Robberecht Adriano Chiò Bryan J Traynor Michael Sendtner Judith Melki Vincent Meininger Orla Hardiman Peter M Andersen Nigel P Leigh Jonathan D Glass Daniel Overste Frank P Diekstra Jan H Veldink Michael A van Es Christopher E Shaw Michael E Weale Cathryn M Lewis Julie Williams Robert H Brown John E Landers Nicola Ticozzi Mauro Ceroni Elena Pegoraro Giacomo P Comi Sandra D'Alfonso Leonard H van den Berg Franco Taroni Ammar Al-Chalabi John Powell Vincenzo Silani

Hum Mol Genet 2014 Apr 20;23(8):2220-31. Epub 2013 Nov 20.

Department of Neuroscience.

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http://dx.doi.org/10.1093/hmg/ddt587	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959809	PMC

April 2014

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia.

Neurobiol Aging 2013 May 11;34(5):1517.e9-10. Epub 2012 Oct 11.

Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.016	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548975	PMC

May 2013

Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia.

J Neurol Neurosurg Psychiatry 2013 Feb 8;84(2):183-7. Epub 2012 Nov 8.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’, Milan, Italy.

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http://dx.doi.org/10.1136/jnnp-2012-303433	DOI Listing

February 2013

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.

Authors:

Nicola Ticozzi Cinzia Tiloca Niccolò E Mencacci Claudia Morelli Alberto Doretti Daniela Rusconi Claudia Colombrita Davide Sangalli Federico Verde Palma Finelli Stefano Messina Antonia Ratti Vincenzo Silani

J Neurol 2013 Jan 1;260(1):85-92. Epub 2012 Jul 1.

Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy; Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, 'Dino Ferrari' Center, Università degli Studi di Milano, 20122 Milan, Italy.

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