Cinzia Bertolin

Cinzia Bertolin

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Cinzia Bertolin

Cinzia Bertolin

Publications by authors named "Cinzia Bertolin"

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16Publications

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Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy.

J Neurol Sci 2019 Sep 6;404:47-51. Epub 2019 Jun 6.

Neuromuscular Center, Department of Neurosciences, University of Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.06.006DOI Listing
September 2019

Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA.

Neurol Sci 2019 Jul 26;40(7):1393-1401. Epub 2019 Mar 26.

Neuromuscular Center, Department of Neurosciences, University of Padova, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-019-03850-2DOI Listing
July 2019

Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.

Hum Brain Mapp 2019 07 28;40(10):3102-3112. Epub 2019 Mar 28.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.

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http://dx.doi.org/10.1002/hbm.24583DOI Listing
July 2019

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

Neurology 2019 03 20;92(11):e1205-e1211. Epub 2019 Feb 20.

From the Institute of Neurology (V.L., O.J.Z., L.Z., C.H., M.F., C.-H.L., B.M., H.Z., A.H., L.G., M.H., P.F.), University College London Institute of Neurology, Queen Square, London; Blizard Institute (V.L., A.M.), Queen Mary, University of London, UK; Department of Neurosciences (G.Q., I.M., C.B., G.S.), University of Padova, Italy; Department of Neurology (C.-H.L.), China Medical University Hospital, Taiwan; Basildon Hospital (K.A.), UK; Department of Physiology, Anatomy and Genetics (C.R.), University of Oxford; UK Dementia Research Institute at UCL (H.Z., A.H.), London, UK; Clinical Neurochemistry Laboratory (H.Z.), Sahlgrenska University Hospital; and the Department of Psychiatry and Neurochemistry (H.Z.), Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000007097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511101PMC
March 2019

The clinical spectrum of -related myopathy.

Neurology 2018 10 26;91(17):e1629-e1641. Epub 2018 Sep 26.

From the Neuromuscular Center (C.S., C.B., L.B., B.P., F.G., S.V., B.F.G., G.S., E.P.), Department of Neurosciences, and Departments of Cardiac, Thoracic and Vascular Sciences (M.P., C.C.), Biomedical Sciences (G.M., S.C.E.T.), and Medicine (R.S.), Section of Radiology, University of Padova, Italy; Dubowitz Neuromuscular Centre (Developmental Neuroscience Programme) (F.C.), UCL Great Ormond Street Institute of Child Health, University College London, UK; Neuromuscular and Rare Disease Unit (I.C., M.M.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan; Department of Biomedical and Neuromotor Sciences (G.C., V.P.), University of Bologna; and CNR Institute of Neuroscience (S.C.E.T.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000006387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205688PMC
October 2018

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Neurol Sci 2016 Nov 21;37(11):1815-1821. Epub 2016 Jul 21.

Department of Neurosciences, Neuromuscular Center, University of Padova, Via Giustiniani 5, 35128, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-016-2666-yDOI Listing
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

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Neurology 2015 Apr 10;84(17):1772-81. Epub 2015 Apr 10.

From the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424130PMC
April 2015

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Neurobiol Aging 2014 May 29;35(5):1212.e7-1212.e10. Epub 2013 Oct 29.

Laboratory of Human Genetics, Department of Biology, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.10.093DOI Listing
May 2014

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder.

J Hum Genet 2011 Dec 13;56(12):869-72. Epub 2011 Oct 13.

Department of Biology, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1038/jhg.2011.111DOI Listing
December 2011

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

J Neurol Sci 2010 Jul 5;294(1-2):124-6. Epub 2010 May 5.

Department of Biology, University of Padova, Via G. Colombo 3, 35135 Padova, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.03.030DOI Listing
July 2010