Publications by authors named "Jose Luis Muñoz-Blanco"

22Publications

Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients.

Int J Mol Sci 2020 Sep 11;21(18). Epub 2020 Sep 11.

Centro de Biología Molecular Severo Ochoa (CSIC-UAM) and Departamento de Biología Molecular, Universidad Autónoma de Madrid, Nicolás Cabrera, 1, 28049 Madrid, Spain.

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http://dx.doi.org/10.3390/ijms21186662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555998PMC
September 2020

Upper trunk brachial plexopathy as a consequence of prone positioning due to SARS-CoV-2 acute respiratory distress syndrome.

Muscle Nerve 2020 Sep 1. Epub 2020 Sep 1.

Neurology Department, ALS-Neuromuscular Diseases Unit, Hospital General Universitario Gregorio, Marañón, Madrid, Spain.

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http://dx.doi.org/10.1002/mus.27055DOI Listing
September 2020

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

Med Clin (Barc) 2020 02 26;154(3):80-85. Epub 2019 Jun 26.

Unidad de Patología Neuromuscular, Departamento de Neurología, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, España; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2019.03.036DOI Listing
February 2020

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

Serial electrophysiological studies using transcranial magnetic stimulation and blink reflex demonstrating demyelinating origin of isolated facial diplegia-subtype of Guillain-Barré syndrome.

Neurophysiol Clin 2017 Sep 19;47(4):323-325. Epub 2017 Jul 19.

Department of Clinical Neurophysiology, Gregorio Marañón University Hospital, Madrid, Spain.

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http://dx.doi.org/10.1016/j.neucli.2017.06.002DOI Listing
September 2017

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

Extracellular Volume Detects Amyloidotic Cardiomyopathy and Correlates With Neurological Impairment in Transthyretin-familial Amyloidosis.

Rev Esp Cardiol (Engl Ed) 2016 Oct 10;69(10):923-930. Epub 2016 Jun 10.

Servicio de Cardiología, Hospital Universitario Puerta de Hierro, Madrid, Spain; Área de Fisiopatología del Miocardio, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.rec.2016.02.027DOI Listing
October 2016

ALS: A bucket of genes, environment, metabolism and unknown ingredients.

Prog Neurobiol 2016 07 26;142:104-129. Epub 2016 May 26.

Neuroscience Area, Biodonostia Health Research Institute, San Sebastián, Gipuzkoa, 20014, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, CIBERNED, Instituto Carlos III, Ministry of Economy and Competitiveness, Madrid, 28031, Spain; Neuromuscular Disorders Unit, Neurology Department, Hospital Donostia, San Sebastián, Gipuzkoa, 20014, Spain; ALS Multidisciplinary Unit, Hospital Donostia, San Sebastián, Gipuzkoa, 20014, Spain; Department of Neurosciences, School of Medicine, University of the Basque Country (EHU-UPV), San Sebastián, Gipuzkoa, 20014, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2016.05.004DOI 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

Kennedy disease with biphasic clinical course and rapid progression.

J Clin Neuromuscul Dis 2014 Jun;15(4):164-6

*Department of Neurology, Madrid, Spain; †ALS-Neuromuscular Unit, Madrid, Spain; ‡Department of Clinical Neurophysiology, Madrid, Spain; and §Instituto de Investigación Sanitaria Gregorio Marañón (IISGM), Hospital General Universitario Gregorio Marañón, Madrid, Spain.

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http://dx.doi.org/10.1097/CND.0000000000000030DOI Listing
June 2014

Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.

Muscle Nerve 2013 Dec 11;48(6):870-6. Epub 2013 Sep 11.

Neuromuscular Diseases Department, Hospital de la Santa Creu i Sant Pau, Mas Casanovas 90, 08041, Barcelona, Spain; Centro Investigacion Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/mus.23843DOI Listing
December 2013