Publications by authors named "Stefania Battistini"

36Publications

Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.

Hum Mutat 2020 May;41(5):1069-1071

Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/humu.24000DOI Listing
May 2020

Genotype-phenotype correlation and evidence for a common ancestor in two Italian ALS patients with the D124G mutation.

Amyotroph Lateral Scler Frontotemporal Degener 2019 11 7;20(7-8):611-614. Epub 2019 Jun 7.

Department of Medical, Surgical and Neurological Sciences, University of Siena , Siena , Italy and.

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https://www.tandfonline.com/doi/full/10.1080/21678421.2019.1
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http://dx.doi.org/10.1080/21678421.2019.1621345DOI Listing
November 2019

MicroRNAs as Biomarkers in Amyotrophic Lateral Sclerosis.

Cells 2018 Nov 20;7(11). Epub 2018 Nov 20.

Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy.

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http://dx.doi.org/10.3390/cells7110219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262636PMC
November 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

Impaired intracortical transmission in G2019S leucine rich-repeat kinase Parkinson patients.

Mov Disord 2017 05 10;32(5):750-756. Epub 2017 Feb 10.

Non-Invasive Brain Stimulation Unit, Neurologia Clinica e Comportamentale, Fondazione Santa Lucia, Rome, Italy.

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http://dx.doi.org/10.1002/mds.26931DOI Listing
May 2017

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.

Neurol Sci 2017 Jan 19;38(1):207-208. Epub 2016 Sep 19.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-016-2709-4DOI Listing
January 2017

Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients.

Neuromolecular Med 2016 Dec 27;18(4):551-560. Epub 2016 Apr 27.

Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s12017-016-8396-8DOI Listing
December 2016

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

J Neurol Sci 2014 Jun 19;341(1-2):176-8. Epub 2014 Mar 19.

Department of Medicine, Surgery and Neurosciences, University of Siena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.03.030DOI Listing
June 2014

Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

J Neurol Neurosurg Psychiatry 2014 May 6;85(5):478-85. Epub 2013 Jul 6.

Department of Neuroscience, ALS Center, 'Rita Levi Montalcini', University of Torino, Torino, and Azienda Ospedaliera Città della Salute e della Scienza, , Torino, Italy.

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http://jnnp.bmj.com/content/early/2013/07/05/jnnp-2013-30554
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2013-305546
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http://dx.doi.org/10.1136/jnnp-2013-305546DOI Listing
May 2014

Genotyping of macrophage migration inhibitory factor (MIF) CATT₅₋₈ repeat polymorphism by denaturing high-performance liquid chromatography (DHPLC).

Mol Biotechnol 2013 Jul;54(3):874-9

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

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http://dx.doi.org/10.1007/s12033-012-9636-2DOI Listing
July 2013

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Amyotroph Lateral Scler 2012 Jan 30;13(1):132-6. Epub 2011 Aug 30.

Laboratory of Neurogenetics, Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Polish Academy of Sciences, Pawińskiego 5, Warsaw, Poland.

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http://dx.doi.org/10.3109/17482968.2011.600316DOI Listing
January 2012

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population.

Neurobiol Aging 2012 Jan 25;33(1):208.e7-8. Epub 2011 Aug 25.

Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.07.010DOI Listing
January 2012

Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

J Mol Neurosci 2010 Oct 24;42(2):235-42. Epub 2010 Apr 24.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://link.springer.com/10.1007/s12031-010-9360-y
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http://dx.doi.org/10.1007/s12031-010-9360-yDOI Listing
October 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

Cavernous malformation of the optic nerve mimicking optic neuritis.

J Neuroophthalmol 2010 Jun;30(2):126-31

Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Azienda Ospedaliera Universitaria Senese, Policlinico "Santa Maria alle Scotte," Viale Mario Bracci, 16, 53100 Siena, Italy.

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http://dx.doi.org/10.1097/WNO.0b013e3181ceb428DOI Listing
June 2010

A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS.

Amyotroph Lateral Scler 2010 Oct;11(5):481-5

Department of Neuroscience, University of Siena, Italy.

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http://dx.doi.org/10.3109/17482960903480383DOI Listing
October 2010

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population.

J Neurol Sci 2007 Jul 25;258(1-2):123-7. Epub 2007 Apr 25.

Laboratory of Human Genetics, Department of Medical Sciences and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Eastern Piedmont University, Novara, Italy.

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http://dx.doi.org/10.1016/j.jns.2007.03.009DOI Listing
July 2007