Giacomo P Comi

Giacomo P Comi

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Giacomo P Comi

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Molecular Approaches for the Treatment of Pompe Disease.

Mol Neurobiol 2019 Nov 12. Epub 2019 Nov 12.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-019-01820-5DOI Listing
November 2019

Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.

Mol Neurobiol 2019 Sep 4;56(9):6460-6471. Epub 2019 Mar 4.

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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http://dx.doi.org/10.1007/s12035-019-1533-2DOI Listing
September 2019

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

Parkinsonism Relat Disord 2019 Jun 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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https://linkinghub.elsevier.com/retrieve/pii/S13538020193009
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http://dx.doi.org/10.1016/j.parkreldis.2019.02.045DOI Listing
June 2019

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.

Ther Adv Neurol Disord 2019 3;12:1756286419833478. Epub 2019 May 3.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1177/1756286419833478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6501480PMC
May 2019

R-Loops in Motor Neuron Diseases.

Mol Neurobiol 2019 Apr 25;56(4):2579-2589. Epub 2018 Jul 25.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-018-1246-yDOI Listing
April 2019

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis.

J Cell Mol Med 2019 Mar 4;23(3):1647-1656. Epub 2019 Jan 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/jcmm.13976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378226PMC
March 2019

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Biochim Biophys Acta Mol Basis Dis 2018 10 1;1864(10):3407-3417. Epub 2018 Aug 1.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; University of Milan, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2018.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134197PMC
October 2018

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

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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http://dx.doi.org/10.1002/jnr.24263DOI Listing
September 2018

Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.

Mol Neurobiol 2018 Aug 2;55(8):6307-6318. Epub 2018 Jan 2.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://link.springer.com/10.1007/s12035-017-0831-9
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http://dx.doi.org/10.1007/s12035-017-0831-9DOI Listing
August 2018

Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.

Neurol Sci 2018 08 15;39(8):1491-1492. Epub 2018 Mar 15.

Neurological Unit, "A. Manzoni" Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy.

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http://dx.doi.org/10.1007/s10072-018-3311-8DOI Listing
August 2018

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature.

Front Neurol 2018 2;9:619. Epub 2018 Aug 2.

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

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http://dx.doi.org/10.3389/fneur.2018.00619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084507PMC
August 2018

Rhabdomyolysis-Associated Acute Kidney Injury.

Am J Kidney Dis 2018 06;71(6):A12-A14

Department of Nephrology, Dialysis and Transplantation, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2018.03.009DOI Listing
June 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

Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy.

Int J Mol Sci 2018 Jan 6;19(1). Epub 2018 Jan 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.3390/ijms19010167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796116PMC
January 2018

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders.

Mol Neurobiol 2017 08 28;54(6):4466-4476. Epub 2016 Jun 28.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-016-9993-0DOI Listing
August 2017

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita.

Neurophysiol Clin 2017 Jun 30;47(3):247-252. Epub 2017 Jan 30.

Department of Medical, Surgical and Neurological Sciences, Neurology-Neurophysiology Unit, University of Siena, Policlinico Le Scotte, Viale Bracci 1, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.neucli.2017.01.003DOI Listing
June 2017

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

Parkinsonism Relat Disord 2017 06 9;39:87-88. Epub 2017 Mar 9.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2017.03.007DOI Listing
June 2017

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Sci Rep 2017 04 6;7:46271. Epub 2017 Apr 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/srep46271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382781PMC
April 2017

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

Hum Mol Genet 2016 10 9;25(19):4266-4281. Epub 2016 Aug 9.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

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http://hmg.oxfordjournals.org/content/early/2016/08/08/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw258DOI Listing
October 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

iPSC-derived LewisX+CXCR4+β1-integrin+ neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.

Hum Mol Genet 2016 08 6;25(15):3152-3163. Epub 2016 Jun 6.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy, and

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http://dx.doi.org/10.1093/hmg/ddw163DOI Listing
August 2016

Loss of Glycogen Debranching Enzyme AGL Drives Bladder Tumor Growth via Induction of Hyaluronic Acid Synthesis.

Clin Cancer Res 2016 Mar 21;22(5):1274-83. Epub 2015 Oct 21.

Department of Surgery (Urology), University of Colorado, Denver, Colorado. Department of Pharmacology, University of Colorado, Denver, Colorado. University of Colorado Comprehensive Cancer Center, Denver, Colorado.

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http://dx.doi.org/10.1158/1078-0432.CCR-15-1706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775343PMC
March 2016

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy.

Neurology 2015 Nov 23;85(21):1886-93. Epub 2015 Oct 23.

From the Neuromuscular and Rare Diseases Unit (L.P., S.T., L.V., M.S., M. Moggio), Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Laboratory of Molecular Medicine for Muscular and Neurodegenerative Diseases (A.D.), Research Center, Confocal Microscopy Facility (S.P.), and Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesù Children's Hospital, Rome; Center of Molecular and Genetic Epidemiology (C.F.), Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan; Dino Ferrari Center (F.M., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan; U.O. Neuromuscular Diseases and Neuroimmunology (L.M., M. Mora), Fondazione IRCCS Istituto Neurologico C. Besta, Milan; and Department of Neurosciences Rita Levi Montalcini (T.M.), University of Turin, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000002147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662699PMC
November 2015

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

J Neurol Sci 2015 Sep 29;356(1-2):7-18. Epub 2015 May 29.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.05.033DOI Listing
September 2015

SOD1 misplacing and mitochondrial dysfunction in amyotrophic lateral sclerosis pathogenesis.

Front Cell Neurosci 2015 25;9:336. Epub 2015 Aug 25.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Italy.

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http://dx.doi.org/10.3389/fncel.2015.00336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4548205PMC
September 2015

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Nat Rev Neurol 2015 Jun 19;11(6):351-9. Epub 2015 May 19.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, Neurology Unit, IRCCS Foundation Ca'Granda Ospedale Maggiore Policlinico, University of Milan, via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1038/nrneurol.2015.77DOI Listing
June 2015

Prevalence of congenital muscular dystrophy in Italy: a population study.

Neurology 2015 Mar 4;84(9):904-11. Epub 2015 Feb 4.

From the Departments of Paediatrics and Neurology (A.G., F.B., G.T., M. Monforte, E.R., M.P., E.M.), Catholic University, Rome; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., G.T., E.B.), Department of Neurosciences, Bambino Gesù Children's Hospital, Rome; Pediatric Neurology and Neuromuscular Disease and Immunology Unit (I.M., M. Mora, L.M.), Istituto Neurologico Besta, Milan; Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina; Neuromuscular Disease Unit (C.B., C.M.), G. Gaslini Institute, Genoa; Department of Neurosciences (E.P.), University of Padua, Italy; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit (G.A., R.B., F.M.S.), Stella Maris Institute, Pisa; Department of Neurological Sciences (F. Magri, G.P.C.), IRCCS Ospedale Maggiore Policlinico, University of Milan; Child Neurology and Psychiatry Unit (A.B.), IRCCS C. Mondino Foundation; Neuromuscular and Rare Diseases Unit (M. Moggio), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Milano; Child Neurology and Psychiatry Unit (A.P.), IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna; Cardiomiologia e Genetica Medica (R.P., L.P.), Dipartimento di Medicina Sperimentale Seconda Università di Napoli; Neuromuscular Center (T.M.), S.G. Battista Hospital, University of Turin; Centro Nemo (K.G.), Milan; Neuromuscular Unit (M.V.), Nigrisoli Hospital, Bologna; Section of Medical Genetics (F.G., A.F.), Department of Experimental and Diagnostic Medicine, Ferrara, Italy; and Dubowitz Neuromuscular Centre (F. Muntoni), UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351663PMC
March 2015

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model.

Sci Adv 2015 Mar 13;1(2):e1500078. Epub 2015 Mar 13.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, and Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.1126/sciadv.1500078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4643829PMC
March 2015

Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.

Mol Neurobiol 2014 Dec 9;50(3):721-32. Epub 2014 May 9.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Policlinico, via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12035-014-8724-7DOI Listing
December 2014

Glycogen storage disease type III: A novel Agl knockout mouse model.

Biochim Biophys Acta 2014 Nov 1;1842(11):2318-28. Epub 2014 Aug 1.

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

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http://dx.doi.org/10.1016/j.bbadis.2014.07.029DOI Listing
November 2014

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation.

Cell Mol Life Sci 2014 Sep 4;71(17):3257-68. Epub 2014 Apr 4.

Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, Dino Ferrari Centre, Neurology Unit, University of Milan, IRCCS Foundation Ca'Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-014-1613-4DOI Listing
September 2014

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1.

Stem Cell Reports 2014 Aug 4;3(2):297-311. Epub 2014 Jul 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2014.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176534PMC
August 2014

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.

Mol Biol Rep 2014 May 23;41(5):2865-74. Epub 2014 Jan 23.

Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s11033-014-3142-5DOI Listing
May 2014

Induced neural stem cells: methods of reprogramming and potential therapeutic applications.

Prog Neurobiol 2014 Mar 15;114:15-24. Epub 2013 Nov 15.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca'Granda Maggiore Hospital Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2013.11.001DOI Listing
March 2014

Effect of combined systemic and local morpholino treatment on the spinal muscular atrophy Δ7 mouse model phenotype.

Clin Ther 2014 Mar;36(3):340-56.e5

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

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http://dx.doi.org/10.1016/j.clinthera.2014.02.004DOI Listing
March 2014

Direct reprogramming of adult somatic cells into other lineages: past evidence and future perspectives.

Cell Transplant 2013 3;22(6):921-44. Epub 2012 Oct 3.

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

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http://dx.doi.org/10.3727/096368912X657477DOI Listing
February 2014

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA).

J Cell Mol Med 2014 Feb 8;18(2):187-96. Epub 2014 Jan 8.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1111/jcmm.12224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930406PMC
February 2014

Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.

Hum Mol Genet 2014 Jan 4;23(2):342-54. Epub 2013 Sep 4.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.

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http://dx.doi.org/10.1093/hmg/ddt425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869354PMC
January 2014

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

Clin Ther 2014 Jan 17;36(1):128-40. Epub 2013 Dec 17.

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

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http://dx.doi.org/10.1016/j.clinthera.2013.11.006DOI Listing
January 2014

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

Cell Mol Life Sci 2013 Dec 18;70(23):4585-602. Epub 2013 Jun 18.

Neuroscience Section, Neurology Unit, Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Italy Via Francesco Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-013-1396-zDOI Listing
December 2013

Mitochondrial fusion proteins and human diseases.

Neurol Res Int 2013 27;2013:293893. Epub 2013 May 27.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1155/2013/293893DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678461PMC
June 2013

Postural effects on lung and chest wall volumes in late onset type II glycogenosis patients.

Respir Physiol Neurobiol 2013 May 15;186(3):308-14. Epub 2013 Mar 15.

Fonds Erasme pour la Recherche Médicale, Université Libre de Bruxelles (ULB), 1070 Brussels, Belgium.

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http://dx.doi.org/10.1016/j.resp.2013.03.004DOI Listing
May 2013

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.

Sci Transl Med 2012 Dec;4(165):165ra162

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan 20135, Italy.

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http://dx.doi.org/10.1126/scitranslmed.3004108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722730PMC
December 2012

Direct reprogramming of human astrocytes into neural stem cells and neurons.

Exp Cell Res 2012 Aug 8;318(13):1528-41. Epub 2012 Mar 8.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00144827120011
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http://dx.doi.org/10.1016/j.yexcr.2012.02.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405531PMC
August 2012

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies.

J Cell Mol Med 2012 Jul;16(7):1353-64

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

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http://dx.doi.org/10.1111/j.1582-4934.2011.01498.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823206PMC
July 2012

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis.

Cell Mol Life Sci 2012 May 18;69(10):1641-50. Epub 2011 Nov 18.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, IRCCS' Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, Milan, Italy.

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http://dx.doi.org/10.1007/s00018-011-0881-5DOI Listing
May 2012

Variants in SNAP25 are targets of natural selection and influence verbal performances in women.

Cell Mol Life Sci 2012 May 23;69(10):1705-15. Epub 2011 Dec 23.

Bioinformatic Lab, Scientific Institute IRCCS E. Medea, Via don L. Monza 20, Bosisio Parini, LC, Italy.

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http://dx.doi.org/10.1007/s00018-011-0896-yDOI Listing
May 2012

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

J Neurol Sci 2012 Apr 22;315(1-2):146-9. Epub 2011 Dec 22.

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

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http://dx.doi.org/10.1016/j.jns.2011.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315002PMC
April 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

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Eur J Hum Genet 2012 Mar 21;20(3):357-60. Epub 2011 Dec 21.

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

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http://dx.doi.org/10.1038/ejhg.2011.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283170PMC
March 2012