Publications by authors named "Maura Brunetti"

45Publications

Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis.

Neurol Sci 2020 Oct 1. Epub 2020 Oct 1.

ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.

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http://dx.doi.org/10.1007/s10072-020-04751-5DOI Listing
October 2020

A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation.

J Clin Neurosci 2020 May 27;75:223-225. Epub 2020 Mar 27.

ALS Centre, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, SC Neurologia 1U, Turin, Italy.

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http://dx.doi.org/10.1016/j.jocn.2020.03.032DOI Listing
May 2020

ALS phenotype is influenced by age, sex, and genetics: A population-based study.

Neurology 2020 02 6;94(8):e802-e810. Epub 2020 Jan 6.

From the ALS Center (A. Chiò, C.M., A. Canosa, U.M., F.D., R.V., M.G., M. Brunetti, M. Barberis, B.I., L.P., J.P.Z., A. Calvo), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza of Torino (A. Chiò, C.M., A. Calvo), Turin; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; Department of Health Sciences Interdisciplinary Research Center of Autoimmune Diseases (L.C., S.D.), "Amedeo Avogadro" University of Eastern Piedmont, Novara; ALS Center, Department of Neurology (M.F.S., V.S., F.D.M., L.M.), Azienda Ospedaliera Universitaria Maggiore della Carità, Novara; and Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008869DOI Listing
February 2020

Cognitive impairment across ALS clinical stages in a population-based cohort.

Neurology 2019 09 13;93(10):e984-e994. Epub 2019 Aug 13.

From the ALS Center (A. Chiò, C.M., A. Canosa, U.M., R.V., M. Brunetti, M. Barberis, J.P.Z., L.P., B.I., A. Calvo), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza of Torino (A. Chiò, C.M., A. Calvo), Turin; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; Department of Health Sciences Interdisciplinary Research Center of Autoimmune Diseases (L.C., S.D.), "Amedeo Avogadro" University of Eastern Piedmont; ALS Center (E.B., M.F.S., V.S., L.M.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità, Novara; and Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000008063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745732PMC
September 2019

Quantitative analysis of self-organized patterns in ombrotrophic peatlands.

Sci Rep 2019 02 6;9(1):1499. Epub 2019 Feb 6.

Group of Applied Physics, University of Geneva, Chemin de Pinchat 22, 1211, Geneva 4, Switzerland.

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http://dx.doi.org/10.1038/s41598-018-37736-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365544PMC
February 2019

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.

Neurobiol Aging 2018 12 24;72:189.e11-189.e17. Epub 2018 Aug 24.

ALS Centre, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, S.C. Neurologia 2 U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R, Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183030
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.08.014DOI Listing
December 2018

The multistep hypothesis of ALS revisited: The role of genetic mutations.

Neurology 2018 08 25;91(7):e635-e642. Epub 2018 Jul 25.

From the "Rita Levi Montalcini" Department of Neuroscience (A. Chiò, A. Canosa, C.M., U.M., M.B., M.B., A. Calvo), University of Torino; Institute of Cognitive Sciences and Technologies (A. Chiò), National Research Council, Rome; ALS Center (L.M., E.B.), Department of Neurology, Azienda Ospedaliera Universitaria Maggiore della Carità; Department of Health Sciences (S.D., L.C.), Interdisciplinary Research Center of Autoimmune Diseases, "Amedeo Avogadro" University of Eastern Piedmont, Novara, Italy; Department of Medical Statistics (N.P.), London School of Hygiene and Tropical Medicine, UK; Centre for Public Health Research (N.P.), Massey University Wellington Campus, New Zealand; Department of Neurology and Neurosurgery (J.H.V., L.H.v.d.B.), Brain Center Rudolf Magnus, University Medical Center Utrecht, the Netherlands; Academic Unit of Neurology (R.M., A.V., O.H., J.R.), Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland; Istituti Clinici Scientifici Maugeri (G.M.), IRCCS Milano, Italy (Gabriele Mora); and King's College London (W.S., A.A.-C.), Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Clinical Neuroscience Institute, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105040PMC
August 2018

Recurrence in the high-order nonlinear Schrödinger equation: A low-dimensional analysis.

Phys Rev E 2017 Jul 26;96(1-1):012222. Epub 2017 Jul 26.

GAP-Nonlinear, Université de Genève, Chemin de Pinchat 22, 1227 Carouge, Switzerland and ISE, Université de Genève, Boulevard Carl-Vogt 66, 1205 Genève, Switzerland.

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http://dx.doi.org/10.1103/PhysRevE.96.012222DOI Listing
July 2017

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.

Muscle Nerve 2018 02 25;57(2):212-216. Epub 2017 Apr 25.

"Rita Levi Montalcini" Department of Neuroscience, Neurology II, ALS Center, University of Torino, Via Cherasco 15, I-10126, Torino, Italy.

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http://dx.doi.org/10.1002/mus.25653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912184PMC
February 2018

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

Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.

Neurodegener Dis 2016 18;16(5-6):373-81. Epub 2016 Jun 18.

NEURORARE Centre for Rare and Genetic Neurological and Neuromuscular Diseases and Neurogenetics, Athens, Greece.

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http://dx.doi.org/10.1159/000444715DOI Listing
September 2017

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Neurobiol Aging 2016 07 9;43:180.e1-5. Epub 2016 Apr 9.

"Rita Levi Montalcini" Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.03.028DOI Listing
July 2016

The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis.

JAMA Neurol 2016 Apr;73(4):425-30

ALS Center, "Rita Levi Montalcini" Department of Neuroscience, University of Torino, Torino, Italy2The Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Torino, Italy3The Neuroscience Institute of Torino, Torino, Italy.

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http://dx.doi.org/10.1001/jamaneurol.2015.4773DOI Listing
April 2016

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Neurobiol Aging 2015 Oct 25;36(10):2906.e1-5. Epub 2015 Jun 25.

ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neurology II, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193218PMC
October 2015

ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

Neurology 2015 Jan 19;84(3):251-8. Epub 2014 Dec 19.

From the ALS Center (A. Chiò, A. Calvo, C.M., A. Canosa, M. Brunetti, M. Barberis), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; the Laboratory of Molecular Genetics (M. Brunetti, M. Barberis, G.R.), Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino (A. Chiò, A. Calvo); the Neuroscience Institute of Torino (NIT) (A. Chiò, A. Calvo); the Departments of Neurosciences, Ophthalmology, Genetics, Rehabilitation, and Child Health (A. Canosa), University of Genoa; the Neurological Institute (A. Conte, G.B., M.S.) and the Institute of Medical Genetics (G. Marangi, A.M., S.L., M.Z.), Catholic University of the Sacred Heart, Rome; the Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) (M. Bagarotti, L.C., S.D.), and the Department of Neurology (E.B., L.M.), "Amedeo Avogadro" University of Eastern Piedmont, Novara; the Salvatore Maugeri Foundation (A.B.), IRCSS, Pavia; the Scientific Institute of Milan (G. Mora); and Azienda Ospedaliera Universitaria Maggiore della Carità (E.B., L.M.), Novara, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001159DOI Listing
January 2015

Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor.

Amyotroph Lateral Scler Frontotemporal Degener 2015 Mar 22;16(1-2):129-30. Epub 2014 Oct 22.

ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Torino , Turin , Italy.

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http://dx.doi.org/10.3109/21678421.2014.969274DOI Listing
March 2015

A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.

Amyotroph Lateral Scler Frontotemporal Degener 2015 Mar 9;16(1-2):127-8. Epub 2014 Oct 9.

ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Torino , Turin.

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http://dx.doi.org/10.3109/21678421.2014.966312DOI Listing
March 2015

NADPH oxidase (NOX2) activity is a modifier of survival in ALS.

J Neurol 2014 Nov 2;261(11):2178-83. Epub 2014 Sep 2.

"Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Torino, Via Cherasco 15, 10126, Turin, Italy,

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http://dx.doi.org/10.1007/s00415-014-7470-0DOI Listing
November 2014

Genetic architecture of ALS in Sardinia.

Neurobiol Aging 2014 Dec 18;35(12):2882.e7-2882.e12. Epub 2014 Jul 18.

Amyotrophic Lateral Sclerosis Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252367PMC
December 2014

A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.

J Neurol Neurosurg Psychiatry 2014 Dec 25;85(12):1437-9. Epub 2014 Apr 25.

'Rita Levi Montalcini' Department of Neuroscience, ALS Center, University of Turin, Turin, Italy Neuroscience Institute of Turin, Turin, Italy.

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http://jnnp.bmj.com/content/85/12/1437.full.pdf
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2013-307552
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http://dx.doi.org/10.1136/jnnp-2013-307552DOI Listing
December 2014

Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.

J Neurol Neurosurg Psychiatry 2015 Feb 25;86(2):168-73. Epub 2014 Apr 25.

'Rita Levi Montalcini' Department of Neuroscience, the ALS Center, University of Torino, Italy The Neuroscience Institute of Torino (NIT) Department of Neurology, Azienda Ospedaliera Città della Salute e della Scienza, Torino, Italy.

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http://dx.doi.org/10.1136/jnnp-2013-307223DOI Listing
February 2015

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Neurobiol Aging 2014 Jun 27;35(6):1513.e7-11. Epub 2013 Dec 27.

"Rita Levi Montalcini" Department of Neuroscience, ALS Center, University of Torino, Torino, Italy; Neuroscience Institute of Torino, Torino, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.12.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961545PMC
June 2014

Extensive genetics of ALS: a population-based study in Italy.

Neurology 2012 Nov 24;79(19):1983-9. Epub 2012 Oct 24.

ALS Center, Department of Neurosciences, University of Torino and AOU San Giovanni Battista of Torino, Torino, Italy.

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http://dx.doi.org/10.1212/WNL.0b013e3182735d36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484987PMC
November 2012

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

Neurobiol Aging 2013 Jan 22;34(1):357.e1-5. Epub 2012 Aug 22.

ALS Center, Department of Neuroscience, University of Torino, and Azienda Ospedale Università San Giovanni Battista, Torino, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.07.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483408PMC
January 2013

An ALS case with a novel D90N-SOD1 heterozygous missense mutation.

Amyotroph Lateral Scler 2012 Jun;13(4):393-5

Department of Neuroscience, University of Turin, Turin, Italy.

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http://dx.doi.org/10.3109/17482968.2012.673170DOI Listing
June 2012

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Sep 8;33(9):2231.e1-2231.e6. Epub 2012 May 8.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3391327PMC
September 2012