Publications by authors named "Javier Ruiz-Martínez"

54Publications

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.

Authors:
Sara Bandres-Ciga Sarah Ahmed Marya S Sabir Cornelis Blauwendraat Astrid D Adarmes-Gómez Inmaculada Bernal-Bernal Marta Bonilla-Toribio Dolores Buiza-Rueda Fátima Carrillo Mario Carrión-Claro Pilar Gómez-Garre Silvia Jesús Miguel A Labrador-Espinosa Daniel Macias Carlota Méndez-Del-Barrio Teresa Periñán-Tocino Cristina Tejera-Parrado Laura Vargas-González Monica Diez-Fairen Ignacio Alvarez Juan Pablo Tartari Mariateresa Buongiorno Miquel Aguilar Ana Gorostidi Jesús Alberto Bergareche Elisabet Mondragon Ana Vinagre-Aragon Ioana Croitoru Javier Ruiz-Martínez Oriol Dols-Icardo Jaime Kulisevsky Juan Marín-Lahoz Javier Pagonabarraga Berta Pascual-Sedano Mario Ezquerra Ana Cámara Yaroslau Compta Manel Fernández Rubén Fernández-Santiago Esteban Muñoz Eduard Tolosa Francesc Valldeoriola Isabel Gonzalez-Aramburu Antonio Sanchez Rodriguez María Sierra Manuel Menéndez-González Marta Blazquez Ciara Garcia Esther Suarez-San Martin Pedro García-Ruiz Juan Carlos Martínez-Castrillo Lydia Vela-Desojo Clara Ruz Francisco Javier Barrero Francisco Escamilla-Sevilla Adolfo Mínguez-Castellanos Debora Cerdan Cesar Tabernero Maria Jose Gomez Heredia Francisco Perez Errazquin Manolo Romero-Acebal Cici Feliz Jose Luis Lopez-Sendon Marina Mata Irene Martínez Torres Jonggeol Jeffrey Kim Clifton L Dalgard Janet Brooks Sara Saez-Atienzar J Raphael Gibbs Rafael Jorda Juan A Botia Luis Bonet-Ponce Karen E Morrison Carl Clarke Manuela Tan Huw Morris Connor Edsall Dena Hernandez Javier Simon-Sanchez Mike A Nalls Sonja W Scholz Adriano Jimenez-Escrig Jacinto Duarte Francisco Vives Raquel Duran Janet Hoenicka Victoria Alvarez Jon Infante Maria José Marti Jordi Clarimón Adolfo López de Munain Pau Pastor Pablo Mir Andrew Singleton

Mov Disord 2019 12 29;34(12):1851-1863. Epub 2019 Oct 29.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/mds.27864DOI Listing
December 2019

Natural history and clinical characteristics of 50 patients with Wolfram syndrome.

Endocrine 2018 09 4;61(3):440-446. Epub 2018 May 4.

Clinical Management Unit, Internal Medicine Hospital La Inmaculada, Area of Health Management North of Almería, Almería, Spain.

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http://dx.doi.org/10.1007/s12020-018-1608-2DOI Listing
September 2018

Not always is an infection.

Med Clin (Barc) 2018 12 6;151(11):e67. Epub 2018 Mar 6.

Servicio de Anatomía Patológica, Hospital General Universitario Reina Sofía, Murcia, España.

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https://linkinghub.elsevier.com/retrieve/pii/S00257753183005
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http://dx.doi.org/10.1016/j.medcli.2018.01.009DOI Listing
December 2018

More than a cyst in the head.

Med Clin (Barc) 2018 10 3;151(8):338. Epub 2018 Feb 3.

Servicio de Dermatología, Hospital General Universitario Reina Sofía, Murcia, España.

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http://dx.doi.org/10.1016/j.medcli.2017.11.049DOI Listing
October 2018

Whole-exome sequencing associates novel gene mutations with familial Parkinson disease.

Neurol Genet 2017 Oct 2;3(5):e177. Epub 2017 Aug 2.

Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.

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http://dx.doi.org/10.1212/NXG.0000000000000177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540655PMC
October 2017

Insights into the Activity and Deactivation of the Methanol-to-Olefins Process over Different Small-Pore Zeolites As Studied with Operando UV-vis Spectroscopy.

ACS Catal 2017 Jun 16;7(6):4033-4046. Epub 2017 May 16.

Inorganic Chemistry and Catalysis, Debye Institute for Nanomaterials Science, Utrecht University, Universiteitsweg 99, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1021/acscatal.6b03677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460665PMC
June 2017

Effect of Feedstock and Catalyst Impurities on the Methanol-to-Olefin Reaction over H-SAPO-34.

ChemCatChem 2017 Jan 29;9(1):183-194. Epub 2016 Nov 29.

Inorganic Chemistry and Catalysis Group, Debye Institute for Nanomaterials Science Utrecht University Universiteitsweg 99 3584 CG Utrecht The Netherlands.

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http://dx.doi.org/10.1002/cctc.201600860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5248630PMC
January 2017

Erythematous infiltrated plaques as an onset manifestation of rapidly evolving lymphoma.

Med Clin (Barc) 2017 08 30;149(3):e13. Epub 2016 Nov 30.

Servicio de Dermatología, Hospital General Universitario Reina Sofía, Murcia, España.

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http://dx.doi.org/10.1016/j.medcli.2016.10.023DOI Listing
August 2017

Fluoride-assisted synthesis of bimodal microporous SSZ-13 zeolite.

Chem Commun (Camb) 2016 Feb;52(15):3227-30

Inorganic Materials Chemistry Group, Schuit Institute of Catalysis, Department of Chemical Engineering and Chemistry, Eindhoven University of Technology 5600 MB, Eindhoven, The Netherlands.

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http://www.rsc.org/suppdata/c6/cc/c6cc00201c/c6cc00201c1.pdf
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http://xlink.rsc.org/?DOI=C6CC00201C
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http://dx.doi.org/10.1039/c6cc00201cDOI Listing
February 2016

[Rapidly evolving tinea corporis].

Rev Iberoam Micol 2016 Jan-Mar;33(1):59-60. Epub 2015 Nov 25.

Servicio de Dermatología, Hospital General Universitario Reina Sofía, Murcia, España.

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http://dx.doi.org/10.1016/j.riam.2015.07.002DOI Listing
December 2016

Effects of Coke Deposits on the Catalytic Performance of Large Zeolite H-ZSM-5 Crystals during Alcohol-to-Hydrocarbon Reactions as Investigated by a Combination of Optical Spectroscopy and Microscopy.

Chemistry 2015 Nov 14;21(48):17324-35. Epub 2015 Oct 14.

Inorganic Chemistry and Catalysis Group, Debye Institute for Nanomaterials Science, Utrecht University, Sorbonnelaan 16, 3584 CA Utrecht (The Netherlands).

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http://dx.doi.org/10.1002/chem.201503136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676928PMC
November 2015

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Hum Mol Genet 2015 Dec 1;24(24):7111-20. Epub 2015 Oct 1.

Department of Neurology, Department of Psychiatry, Department of Genetics and Genomic Sciences, Friedman Brain Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA and

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http://dx.doi.org/10.1093/hmg/ddv410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654061PMC
December 2015

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

ASN Neuro 2015 Jul-Aug;7(4). Epub 2015 Aug 21.

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA Departments of Psychiatry and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, New York, NY, USA

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http://journals.sagepub.com/doi/10.1177/1759091415598290
Publisher Site
http://dx.doi.org/10.1177/1759091415598290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550298PMC
March 2016

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.

J Hum Genet 2015 Oct 2;60(10):637-40. Epub 2015 Jul 2.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.

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http://dx.doi.org/10.1038/jhg.2015.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624020PMC
October 2015

Autonomic involvement in Parkinsonian carriers of PARK2 gene mutations.

Parkinsonism Relat Disord 2015 Jul 23;21(7):717-22. Epub 2015 Apr 23.

Neurodegenerative Unit, Biocruces Research Institute, Bilbao, Spain; Neurology Service, Cruces University Hospital, Baracaldo, Biscay, Spain; Department of Neurosciences, School of Medicine and Dentistry University of the Basque Country, Leioa, Biscay, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.04.012DOI Listing
July 2015

Higher frequency of certain cancers in LRRK2 G2019S mutation carriers with Parkinson disease: a pooled analysis.

JAMA Neurol 2015 Jan;72(1):58-65

Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York14Department of Neurology, Albert Einstein College of Medicine, Bronx, New York15Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1001/jamaneurol.2014.1973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366130PMC
January 2015

Catalytic dehydrogenation of light alkanes on metals and metal oxides.

Chem Rev 2014 Oct 27;114(20):10613-53. Epub 2014 Aug 27.

Inorganic Chemistry and Catalysis, Debye Institute of Nanomaterials, Utrecht University , Universiteitsweg 99, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1021/cr5002436DOI Listing
October 2014

Epitope Mapping of Antibodies to Alpha-Synuclein in LRRK2 Mutation Carriers, Idiopathic Parkinson Disease Patients, and Healthy Controls.

Front Aging Neurosci 2014 15;6:169. Epub 2014 Jul 15.

Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols", UAM-CSIC, Facultad de Medicina, Universidad Autónoma de Madrid , Madrid , Spain ; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) , Madrid , Spain.

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http://dx.doi.org/10.3389/fnagi.2014.00169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4097207PMC
July 2014

Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.

Mov Disord 2014 May 19;29(6):750-5. Epub 2013 Dec 19.

Department of Neurology, University Hospital Donostia, San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED), San Sebastián, Spain; Neurosciences Area, Biodonostia Institute, San Sebastián, Spain.

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http://dx.doi.org/10.1002/mds.25778DOI Listing
May 2014

Single-particle spectroscopy on large SAPO-34 crystals at work: methanol-to-olefin versus ethanol-to-olefin processes.

Chemistry 2013 Aug 23;19(34):11204-15. Epub 2013 Jul 23.

Inorganic Chemistry and Catalysis, Debye Institute for Nanomaterials Science, Utrecht University Universiteitsweg 99, 3584 CG, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/chem.201300540DOI Listing
August 2013

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.

Mov Disord 2013 Oct 27;28(12):1737-40. Epub 2013 May 27.

Service of Neurology, Universitary Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria (UC), Santander, Spain.

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http://dx.doi.org/10.1002/mds.25507DOI Listing
October 2013

Correlating metal poisoning with zeolite deactivation in an individual catalyst particle by chemical and phase-sensitive X-ray microscopy.

Angew Chem Int Ed Engl 2013 Jun 24;52(23):5983-7. Epub 2013 Apr 24.

Inorganic Chemistry and Catalysis, Debye Institute for Nanomaterials Science, Utrecht University, Universiteitslaan 99, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/anie.201210030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749464PMC
June 2013

Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the α synuclein gene.

Parkinsonism Relat Disord 2013 Jan 19;19(1):95-100. Epub 2012 Sep 19.

Movement Disorders and Autonomic Unit, Neurology Service, Cruces University Hospital, Basque Health Service, Department of Neurosciences, University of the Basque Country, Spain.

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http://dx.doi.org/10.1016/j.parkreldis.2012.08.001DOI Listing
January 2013

Integrated laser and electron microscopy correlates structure of fluid catalytic cracking particles to Brønsted acidity.

Angew Chem Int Ed Engl 2012 Feb 23;51(6):1428-31. Epub 2011 Dec 23.

Debye Institute for Nanomaterials Science, Faculty of Science, Utrecht University, Universiteitsweg 99, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/anie.201106651DOI Listing
February 2012

Staining of fluid-catalytic-cracking catalysts: localising Brønsted acidity within a single catalyst particle.

Chemistry 2012 Jan 9;18(4):1094-101. Epub 2011 Dec 9.

Inorganic Chemistry and Catalysis Group, Department of Chemistry, Utrecht University, Universiteitsweg 99, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/chem.201102949DOI Listing
January 2012

Catalytic activity in individual cracking catalyst particles imaged throughout different life stages by selective staining.

Nat Chem 2011 Sep 18;3(11):862-7. Epub 2011 Sep 18.

Inorganic Chemistry and Catalysis Group, Debye Institute for NanoMaterials Science, Faculty of Science, Utrecht University, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/nchem.1148DOI Listing
September 2011

Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.

Mov Disord 2009 Oct;24(13):1998-2001

Department of Neurology, Hospital Donostia, Paseo Dr. Beguiristain s.n, 20014 Donostia, San Sebastián, Gipuzkoa, Spain.

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http://dx.doi.org/10.1002/mds.22677DOI Listing
October 2009