Ricardo Rojas-Garcia

Ricardo Rojas-Garcia

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Ricardo Rojas-Garcia

Ricardo Rojas-Garcia

Publications by authors named "Ricardo Rojas-Garcia"

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23Publications

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Decreased circulating ErbB4 ectodomain fragments as a read-out of impaired signaling function in amyotrophic lateral sclerosis.

Neurobiol Dis 2019 04 27;124:428-438. Epub 2018 Dec 27.

Instituto de Neurociencias de Alicante, Universidad Miguel Hernández-CSIC, Sant Joan d'Alacant, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.12.021DOI Listing
April 2019

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases.

J Neuropathol Exp Neurol 2018 10;77(10):964-972

Department of Neuromuscular Diseases Laboratory, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain and Centro de Investigación Biomédica en Red sobre Enfermedades Raras.

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http://dx.doi.org/10.1093/jnen/nly078DOI Listing
October 2018

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.

Arthritis Res Ther 2017 07 24;19(1):174. Epub 2017 Jul 24.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau and Institut de Recerca Sant Pau, Universitat Autònoma de Barcelona, Sant Antoni Maria Claret 167, 08025, Barcelona, Spain.

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http://dx.doi.org/10.1186/s13075-017-1383-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525343PMC
July 2017

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.23161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324646PMC
March 2017

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

Amyloid 2016 23;23(1):64-5. Epub 2016 Jan 23.

b Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau , Universitat Autonoma de Barcelona, and Centro de Investigacion Biomedica en Red de Neurodegeneracion (CIBERNED) , Barcelona , Spain.

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http://dx.doi.org/10.3109/13506129.2015.1127223DOI Listing
December 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

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.

Neurology 2014 Mar 12;82(10):879-86. Epub 2014 Feb 12.

From the Neuromuscular Diseases Unit (L.Q., G.N.-G., R.R.-G., J.D.-M., E.G., R.B., I.I.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Centro para la Investigación Biomédica en Red en Enfermedades Neurodegenerativas (L.Q., G.N.-G., R.R.-G., J.D.-M., M.J.S., E.G., J.B., I.I.), CIBERNED, Madrid; Department of Neurology (J.P.), Hospital Clínico de Santiago, Santiago de Compostela; Department of Neurology (A.O.-M.), Hospital Virgen de las Nieves, Granada; Department of Neurology (M.J.S., J.B.), University Hospital Marqués de Valdecilla (IFIMAV) and University of Cantabria; Department of Neurology (J.D.), Hospital Clinic, Universitat de Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona; and Institució Catalana de Recerca i Estudis Avançats (J.D.), Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959751PMC
March 2014

Comprehensive care of amyotrophic lateral sclerosis patients: a care model.

Arch Bronconeumol 2013 Dec 26;49(12):529-33. Epub 2013 Mar 26.

Departamento de Neumología, Hospital de la Santa Creu i Sant Pau, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.arbres.2013.01.013DOI Listing
December 2013

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

Mol Ther 2012 Oct 21;20(10):1988-97. Epub 2012 Aug 21.

Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S152500161632195
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http://dx.doi.org/10.1038/mt.2012.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464637PMC
October 2012

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PLoS One 2011 16;6(12):e29061. Epub 2011 Dec 16.

Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029061PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241698PMC
August 2012

A proposed staging system for amyotrophic lateral sclerosis.

Brain 2012 Mar 23;135(Pt 3):847-52. Epub 2012 Jan 23.

MRC Centre for Neurodegeneration Research, King's College London, Institute of Psychiatry, London SE5 8AF, UK.

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http://dx.doi.org/10.1093/brain/awr351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286327PMC
March 2012

No evidence for a large difference in ALS frequency in populations of African and European origin: a population based study in inner city London.

Amyotroph Lateral Scler 2012 Jan;13(1):66-8

Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.3109/17482968.2011.636049DOI Listing
January 2012

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report.

J Med Case Rep 2008 Aug 27;2:284. Epub 2008 Aug 27.

Departament de Bioquímica i Biologia Molecular and Institut de Biomedicina (IBUB), Universitat de Barcelona, and CIBER Fisiopatologia Obesidad y Nutrición, Instituto de Salud Carlos III, Avda Diagonal 645, 08028, Barcelona, Spain.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
Publisher Site
http://dx.doi.org/10.1186/1752-1947-2-284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533346PMC
August 2008

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

J Biol Chem 2006 Jun 11;281(25):17092-8. Epub 2006 Apr 11.

Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1074/jbc.M601885200DOI Listing
June 2006