Cristina Cereda

Cristina Cereda

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Cristina Cereda

Publications by authors named "Cristina Cereda"

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Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Stem Cell Res 2019 12 14;41:101580. Epub 2019 Sep 14.

"Angelo Nocivelli" Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101580DOI Listing
December 2019

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Stem Cell Res 2019 12 22;41:101620. Epub 2019 Oct 22.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101620DOI Listing
December 2019

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Stem Cell Res 2019 12 22;41:101623. Epub 2019 Oct 22.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; "Angelo Nocivelli" Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101623DOI Listing
December 2019

HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation.

Amyotroph Lateral Scler Frontotemporal Degener 2019 Oct 30:1-12. Epub 2019 Oct 30.

School of Medicine and Surgery and Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.

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http://dx.doi.org/10.1080/21678421.2019.1672749DOI Listing
October 2019

Altered immune system in frailty: Genetics and diet may influence inflammation.

Ageing Res Rev 2019 Sep 18;54:100935. Epub 2019 Jul 18.

Genomic and post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1016/j.arr.2019.100935DOI Listing
September 2019

A pilot study assessing T1-weighted muscle MRI in amyotrophic lateral sclerosis (ALS).

Skeletal Radiol 2019 Apr 17;48(4):569-575. Epub 2018 Sep 17.

Neuroradiology Department, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1007/s00256-018-3073-7DOI Listing
April 2019

Long non coding RNAs and ALS: Still much to do.

Noncoding RNA Res 2018 Dec 15;3(4):226-231. Epub 2018 Nov 15.

Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ncrna.2018.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260474PMC
December 2018

SOD1 in Amyotrophic Lateral Sclerosis: "Ambivalent" Behavior Connected to the Disease.

Int J Mol Sci 2018 May 3;19(5). Epub 2018 May 3.

Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia 27100, Italy.

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http://dx.doi.org/10.3390/ijms19051345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983710PMC
May 2018

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

J Hum Genet 2018 03 7;63(3):391. Epub 2018 Feb 7.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/s10038-017-0369-8DOI Listing
March 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.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

J Headache Pain 2017 Dec 7;18(1):63. Epub 2017 Jun 7.

Genomic and Post-Genomic Center, "C. Mondino" National Neurological Institute, Mondino 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1186/s10194-017-0770-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462664PMC
December 2017

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

J Hum Genet 2017 Nov 27;62(11):1001-1004. Epub 2017 Jul 27.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2017.78DOI Listing
November 2017

Analysis of amplicon-based NGS data from neurological disease gene panels: a new method for allele drop-out management.

BMC Bioinformatics 2016 Nov 8;17(Suppl 12):339. Epub 2016 Nov 8.

Department of Electrical, Computer and Biomedical engineering, University of Pavia, Pavia, 27100, Italy.

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http://dx.doi.org/10.1186/s12859-016-1189-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123238PMC
November 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.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

A Surveillance Function of the HSPB8-BAG3-HSP70 Chaperone Complex Ensures Stress Granule Integrity and Dynamism.

Mol Cell 2016 09 25;63(5):796-810. Epub 2016 Aug 25.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena 41125, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2016.07.021DOI Listing
September 2016

The Possible Involvement of HLA Class III Haplotype (RAGE, HSP70 and TNF Genes) in Alzheimer's Disease.

Curr Alzheimer Res 2015 ;12(10):997-1005

IRCCS National Neurological Institute "C. Mondino", University of Pavia, Via Mondino 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.2174/1567205012666151027130635DOI Listing
August 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Legius Syndrome: two novel mutations in the SPRED1 gene.

Hum Genome Var 2015 3;2:15051. Epub 2015 Dec 3.

Laboratory of Experimental Neurobiology, 'C. Mondino' National Neurological Institute , Pavia, Italy.

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http://dx.doi.org/10.1038/hgv.2015.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785569PMC
April 2016

Hydrogen peroxide-mediated induction of SOD1 gene transcription is independent from Nrf2 in a cellular model of neurodegeneration.

Biochim Biophys Acta 2016 Feb 24;1859(2):315-23. Epub 2015 Nov 24.

Laboratory of Experimental Neurobiology, "C. Mondino" National Institute of Neurology Foundation, IRCCS, Via Mondino 2, 27100 Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2015.11.009DOI Listing
February 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Sporadic and familial glut1ds Italian patients: A wide clinical variability.

Seizure 2015 Jan 26;24:28-32. Epub 2014 Nov 26.

Brain and Behaviour Department, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy. Electronic address:

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http://www.glut1.it/wp-content/uploads/2014/12/familial-glut
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http://dx.doi.org/10.1016/j.seizure.2014.11.009DOI Listing
January 2015

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2014 Jun 14;82(23):2072-6. Epub 2014 May 14.

From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118497PMC
June 2014

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

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.2013.09.037DOI Listing
April 2014

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.

Amyotroph Lateral Scler Frontotemporal Degener 2014 Mar 1;15(1-2):141-4. Epub 2013 Oct 1.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa.

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http://dx.doi.org/10.3109/21678421.2013.837931DOI Listing
March 2014

SOD1 and DJ-1 converge at Nrf2 pathway: a clue for antioxidant therapeutic potential in neurodegeneration.

Oxid Med Cell Longev 2013 28;2013:836760. Epub 2013 Jul 28.

Laboratory of Experimental Neurobiology, National Neurological Institute C. Mondino, IRCCS, Pavia, Italy.

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http://dx.doi.org/10.1155/2013/836760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745953PMC
February 2014

Posttranscriptional regulation of SOD1 gene expression under oxidative stress: Potential role of ELAV proteins in sporadic ALS.

Neurobiol Dis 2013 Dec 20;60:51-60. Epub 2013 Aug 20.

Laboratory of Experimental Neurobiology, "C. Mondino" National Institute of Neurology Foundation, IRCCS, Via Mondino 2, 27100 Pavia, Italy; Department of Public Health, Neuroscience, Experimental and Forensic Medicine, University of Pavia, Via Ferrata 9, 27100 Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2013.08.005DOI Listing
December 2013

The human leukocyte antigen class III haplotype approach: new insight in Alzheimer's disease inflammation hypothesis.

Curr Alzheimer Res 2013 Dec;10(10):1047-56

Laboratory of Immunogenetics, Department of Biology & Biotechnology "Lazzaro Spallanzani" University of Pavia, Via Ferrata, 1 27100 Pavia-Italy.

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http://dx.doi.org/10.2174/15672050113106660169DOI Listing
December 2013

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Regulation of FMO and PON detoxication systems in ALS human tissues.

Neurotox Res 2013 May 17;23(4):370-7. Epub 2012 Oct 17.

Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute C. Mondino, Via Mondino, 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s12640-012-9356-1DOI Listing
May 2013

From Transcriptome to Noncoding RNAs: Implications in ALS Mechanism.

Neurol Res Int 2012 17;2012:278725. Epub 2012 Jun 17.

Laboratory of Experimental Neurobiology, IRCCS National Neurological Institute "C. Mondino," 27100 Pavia, Italy.

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http://dx.doi.org/10.1155/2012/278725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385659PMC
August 2012

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Mar 3;33(3):630.e1-2. Epub 2011 Dec 3.

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.2011.10.025DOI Listing
March 2012

An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1.

Proc Natl Acad Sci U S A 2012 Mar 13;109(13):5074-9. Epub 2012 Mar 13.

Weinberg Unit for ALS Research, Department of Neuroscience, Farber Institute for Neurosciences, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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http://dx.doi.org/10.1073/pnas.1115402109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324021PMC
March 2012

Flavin-containing monooxygenase mRNA levels are up-regulated in als brain areas in SOD1-mutant mice.

Neurotox Res 2011 Aug 17;20(2):150-8. Epub 2010 Nov 17.

Lab of Experimental Neurobiology, IRCCS National Neurological Institute C. Mondino, Via Mondino, 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s12640-010-9230-yDOI Listing
August 2011

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease.

Neurobiol Aging 2011 Jul 6;32(7):1231-5. Epub 2009 Aug 6.

Department of Health Sciences, Section of Psychiatry, University of Pavia, Via Bassi 21, Pavia, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.07.003DOI Listing
July 2011

SOD1 Transcriptional and Posttranscriptional Regulation and Its Potential Implications in ALS.

Neurol Res Int 2011 17;2011:458427. Epub 2011 Apr 17.

Laboratory of Experimental Neurobiology, IRCCS, National Neurological Institute "C. Mondino," Via Mondino 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1155/2011/458427DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096450PMC
July 2011

NGF and heart: Is there a role in heart disease?

Pharmacol Res 2011 Apr 30;63(4):266-77. Epub 2010 Dec 30.

Department of Experimental and Applied Pharmacology and Centre of Excellence in Applied Biology, University of Pavia, Italy.

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http://dx.doi.org/10.1016/j.phrs.2010.12.017DOI Listing
April 2011

A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.

Neurobiol Aging 2011 Mar 3;32(3):552.e1-6. Epub 2010 Apr 3.

Department Medical Sciences, Interdisciplinary Research Center of Autoimmune Diseases, University of Eastern Piedmont, Novara, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S019745801000089
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http://dx.doi.org/10.1016/j.neurobiolaging.2010.02.011DOI Listing
March 2011

Comparison of three methods for genotyping of prothrombotic polymorphisms.

Clin Exp Med 2010 Dec 29;10(4):269-72. Epub 2010 Apr 29.

Laboratory of Neurogenetics, IRCCS Neurological Institute "C. Mondino", Via Mondino 2, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s10238-010-0096-3DOI Listing
December 2010

G93A SOD1 alters cell cycle in a cellular model of Amyotrophic Lateral Sclerosis.

Cell Signal 2010 Oct 31;22(10):1477-84. Epub 2010 May 31.

Laboratory of Experimental Neurobiology, IRCCS, National Neurological Institute C. Mondino, Via Mondino, 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.cellsig.2010.05.016DOI Listing
October 2010

SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis.

Neurobiol Dis 2010 Aug 23;39(2):198-203. Epub 2010 Apr 23.

Laboratory of Experimental Neurobiology, IRCCS, Neurological Institute "C. Mondino", Pavia, Italy.

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http://dx.doi.org/10.1016/j.nbd.2010.04.008DOI Listing
August 2010

Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene.

J Neurol Sci 2010 Jun 10;293(1-2):112-5. Epub 2010 Apr 10.

Department of Neuroscience, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.03.009DOI Listing
June 2010

Time course of oxidant markers and antioxidant defenses in subgroups of amyotrophic lateral sclerosis patients.

Neurochem Int 2010 Apr 10;56(5):687-93. Epub 2010 Feb 10.

Laboratory of Experimental Neurobiology, IRCCS, Foundation Neurological Institute C. Mondino, Via Mondino, 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.neuint.2010.02.004DOI Listing
April 2010

Optimization protocol for amyloid-β peptides detection in human cerebrospinal fluid using SELDI TOF MS.

Proteomics Clin Appl 2010 Mar;4(3):352-7

Proteomics Unit, IRCCS Centro S. Giovanni di Dio-FBF, Brescia, Italy.

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http://dx.doi.org/10.1002/prca.200900166DOI Listing
March 2010

Doxorubicin and congo red effectiveness on prion infectivity in golden Syrian hamster.

Anticancer Res 2009 Jul;29(7):2507-12

Laboratory of Experimental Neurobiology, Neurological Institute IRCCS C Mondino, Pavia, Italy.

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July 2009

TNF and sTNFR1/2 plasma levels in ALS patients.

J Neuroimmunol 2008 Feb 20;194(1-2):123-31. Epub 2008 Feb 20.

Neurological Institute IRCCS "C. Mondino", Pavia, Italy.

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http://dx.doi.org/10.1016/j.jneuroim.2007.10.028DOI Listing
February 2008

Young-onset CJD: age and disease phenotype in variant and sporadic forms.

Funct Neurol 2006 Oct-Dec;21(4):211-5

Laboratory of Experimental Neurobiology, IRCCS C. Mondino Institute of Neurology Foundation, Pavia, Italy.

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May 2007

Increased incidence of FMO1 gene single nucleotide polymorphisms in sporadic amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2006 Dec;7(4):227-34

Experimental Neurobiology, Neurological Institute IRCCS C Mondino, Pavia, Italy.

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http://dx.doi.org/10.1080/17482960600864413DOI Listing
December 2006

Modified expression of Bcl-2 and SOD1 proteins in lymphocytes from sporadic ALS patients.

Neurosci Lett 2006 May 21;399(3):186-90. Epub 2006 Feb 21.

Laboratory of Experimental Neurobiology, IRCCS, Foundation C. Mondino Institute of Neurology, via Mondino, 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.neulet.2006.01.057DOI Listing
May 2006