Cinzia Gellera

Cinzia Gellera

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Cinzia Gellera

Cinzia Gellera

Publications by authors named "Cinzia Gellera"

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Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Neurology 2019 Aug 9;93(7):310-312. Epub 2019 Jul 9.

From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007951DOI Listing
August 2019

Expanding the central nervous system disease spectrum associated with FLNC mutation.

Muscle Nerve 2019 05 20;59(5):E33-E37. Epub 2019 Feb 20.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/mus.26443DOI Listing
May 2019

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Seizure 2019 Feb 8;65:106-108. Epub 2019 Jan 8.

Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183078
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http://dx.doi.org/10.1016/j.seizure.2019.01.005DOI Listing
February 2019

Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis.

Neuroimage Clin 2018 17;19:675-682. Epub 2018 May 17.

Institute for Advanced Study-IUSS Pavia, Palazzo del Broletto e Piazza Vittoria 15, 27100 Pavia, Italy; IRCCS S. Giovanni di Dio Fatebenefratelli, via Pilastroni 4, 25125 Brescia, Italy.

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http://dx.doi.org/10.1016/j.nicl.2018.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6046611PMC
January 2019

Familial vitamin E deficiency: Multiorgan complications support the adverse role of oxidative stress.

Nutrition 2019 Jul - Aug;63-64:57-60. Epub 2018 Dec 1.

Department of Medicine, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nut.2018.11.012DOI Listing
December 2018

Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease.

Parkinsonism Relat Disord 2018 06 23;51:17-23. Epub 2018 Feb 23.

Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.033DOI Listing
June 2018

Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.

Neurosci Lett 2018 06 30;678:37-42. Epub 2018 Apr 30.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.neulet.2018.04.044DOI 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

Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study.

Gait Posture 2017 09 17;57:11-14. Epub 2017 May 17.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2017.05.007DOI Listing
September 2017

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation.

Seizure 2017 Apr 6;47:71-73. Epub 2017 Mar 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.03.003DOI Listing
April 2017

Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation.

Neurol Sci 2016 Sep 28;37(9):1571-2. Epub 2016 Mar 28.

Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy.

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http://dx.doi.org/10.1007/s10072-016-2561-6DOI Listing
September 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

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.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
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.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 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

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Neuromuscul Disord 2015 Oct 29;25(10):800-1. Epub 2015 Jul 29.

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.07.015DOI Listing
October 2015

Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.

Pediatr Neurol 2014 Sep 4;51(3):430-3. Epub 2014 Jun 4.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.05.029DOI Listing
September 2014

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

Parkinsonism Relat Disord 2014 Aug 26;20(8):919-23. Epub 2014 Apr 26.

Department of Neurology, Skåne University Hospital, Lund, Sweden; Department of Neurology, Clinical Sciences, Lund University, Lund, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.04.018DOI Listing
August 2014

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology 2014 Jun 7;82(22):2003-6. Epub 2014 May 7.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., F.P., S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000048
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http://dx.doi.org/10.1212/WNL.0000000000000482DOI Listing
June 2014

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Neurol Sci 2012 Dec 22;33(6):1383-7. Epub 2011 Dec 22.

Clinical Neurology, Section for Neuromuscular Diseaseas and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy.

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http://dx.doi.org/10.1007/s10072-011-0900-1DOI Listing
December 2012

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Neurobiol Aging 2012 Aug 16;33(8):1847.e15-21. Epub 2012 Mar 16.

Genetics of Neurodegenerative and Metabolic Disorders, Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.02.004DOI Listing
August 2012

Cortical myoclonus in childhood and juvenile onset Huntington's disease.

Parkinsonism Relat Disord 2012 Jul 10;18(6):794-7. Epub 2012 Apr 10.

Dept. of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2012.03.011DOI Listing
July 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

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Parkinsonism Relat Disord 2011 Jul 6;17(6):479-81. Epub 2011 May 6.

Dipartimento di Scienze Neurologiche e della Visione, Azienda Ospedaliera-Universitaria Integrata di Verona, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.03.015DOI Listing
July 2011

Brain diffusion-weighted imaging in Friedreich's ataxia.

Mov Disord 2011 Mar 2;26(4):705-12. Epub 2011 Mar 2.

MR Spectroscopy Unit, Department of Internal Medicine, Aging and Nephrology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/mds.23518DOI Listing
March 2011

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.

Neuromuscul Disord 2011 Feb 14;21(2):129-31. Epub 2010 Oct 14.

Unit of Clinic of Central and Peripheral Degenerative Neuropathies, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2010.09.009DOI Listing
February 2011

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course.

Muscle Nerve 2010 Oct;42(4):596-7

Department of Neurology, Nuovo Ospedale Civile S. Agostino Estense, Via Giardini 1355, 41126 Modena, Italy.

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http://doi.wiley.com/10.1002/mus.21750
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http://dx.doi.org/10.1002/mus.21750DOI Listing
October 2010

A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference.

Exp Neurol 2009 Jun 13;217(2):312-9. Epub 2009 Mar 13.

Medtronic Bakken Research Center, Corporate Science and Technology, 6229 GW Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.expneurol.2009.03.004DOI Listing
June 2009

A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.

Genet Test Mol Biomarkers 2009 Feb;13(1):37-42

Dipartimento di Scienze e Tecnologie Biomediche, Università degli Studi, Udine, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0084DOI Listing
February 2009

Visual system involvement in patients with Friedreich's ataxia.

Brain 2009 Jan 18;132(Pt 1):116-23. Epub 2008 Oct 18.

Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1093/brain/awn269DOI Listing
January 2009

Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy.

J Child Neurol 2008 Nov;23(11):1328-30

Pediatric Neurology Unit, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.

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http://journals.sagepub.com/doi/10.1177/0883073808318058
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http://dx.doi.org/10.1177/0883073808318058DOI Listing
November 2008

The rare G93D mutation causes a slowly progressing lower motor neuron disease.

Amyotroph Lateral Scler 2008 ;9(1):35-9

Molecular Diagnosis and Genetic Counselling Unit, Children's Hospital, Turin.

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http://dx.doi.org/10.1080/17482960701788198DOI Listing
April 2008

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.

Neurogenetics 2008 Feb 18;9(1):33-40. Epub 2007 Dec 18.

Division of Biochemistry and Genetics, Fondazione IRCCS-Instituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10048-007-0111-3DOI Listing
February 2008

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Neurogenetics 2007 Nov 17;8(4):289-99. Epub 2007 Aug 17.

UO Biochimica e Genetica, Fondazione IRCCS Istituto Neurologico "Carlo Besta", via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1007/s10048-007-0101-5DOI Listing
November 2007

Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency.

Eur J Pediatr 2006 Jul 21;165(7):494-5. Epub 2006 Feb 21.

Operative Unit of Child Neuropsychiatry, Department of Neurosciences, Ophthalmology and Genetics, G Gaslini Institute, University of Genoa, L.go Gaslini 5, 16148 Genoa, Italy.

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http://dx.doi.org/10.1007/s00431-006-0085-4DOI Listing
July 2006

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Brain 2006 Jan 26;129(Pt 1):235-42. Epub 2005 Oct 26.

Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

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http://dx.doi.org/10.1093/brain/awh651DOI Listing
January 2006

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.

J Mol Diagn 2004 May;6(2):96-100

Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and Azienda Ospedaliera San Giovanni Battista di Torino, S.C. Genetica Medica, Torino, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1867469PMC
http://dx.doi.org/10.1016/S1525-1578(10)60496-5DOI Listing
May 2004

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Arch Neurol 2004 May;61(5):727-33

Dipartimento di Genetica, Biologia e Biochimica, Università di Torino and Unitá Operativa Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

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http://dx.doi.org/10.1001/archneur.61.5.727DOI Listing
May 2004

The gender effect in juvenile Huntington disease patients of Italian origin.

Am J Med Genet B Neuropsychiatr Genet 2004 Feb;125B(1):92-8

Neurological Institute IRCCS Neuromed, Pozzilli (IS), Italy.

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http://dx.doi.org/10.1002/ajmg.b.20110DOI Listing
February 2004