Jose Luis Muñoz-Blanco

Jose Luis Muñoz-Blanco

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Jose Luis Muñoz-Blanco

Jose Luis Muñoz-Blanco

Publications by authors named "Jose Luis Muñoz-Blanco"

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18Publications

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

Med Clin (Barc) 2019 Jun 25. Epub 2019 Jun 25.

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
June 2019

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

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

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

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