Publications by authors named "Adriano Jimenez-Escrig"

31Publications

α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer's disease.

Alzheimers Res Ther 2020 Oct 31;12(1):139. Epub 2020 Oct 31.

Department of Neurology, Fundación Jiménez Díaz, Avenida de los Reyes Católicos 2, 28040, Madrid, Spain.

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http://dx.doi.org/10.1186/s13195-020-00708-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603780PMC
October 2020

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

Neurogenetics 2020 04 15;21(2):135-143. Epub 2020 Feb 15.

Servicio de Genética, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) and Hospital Universitario Ramón y Cajal, CIBERER, 28034, Madrid, Spain.

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http://dx.doi.org/10.1007/s10048-020-00605-6DOI Listing
April 2020

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

Anti-N-Methyl-D-Aspartate Encephalitis as Paraneoplastic Manifestation of Germ-Cells Tumours: A Cases Report and Literature Review.

Case Reports Immunol 2019 10;2019:4762937. Epub 2019 Mar 10.

Department of Immunology. Hospital Universitario Ramón y Cajal, Ctra. Colmenar Km 9,1, 28034 Madrid, Spain.

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http://dx.doi.org/10.1155/2019/4762937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431454PMC
March 2019

Clinical and genetical study of a familial form of REM sleep behavior disorder.

Clin Neurol Neurosurg 2018 12 4;175:130-133. Epub 2018 Oct 4.

Department of Neurology, Hospital Ramon y Cajal, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2018.09.035DOI Listing
December 2018

RNA-Seq blood transcriptome profiling in familial attention deficit and hyperactivity disorder (ADHD).

Psychiatry Res 2018 12 12;270:544-546. Epub 2018 Oct 12.

Department of Neurology, Hospital Ramon y Cajal, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01651781183078
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http://dx.doi.org/10.1016/j.psychres.2018.10.025DOI Listing
December 2018

A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family.

J Peripher Nerv Syst 2017 09 27;22(3):208-212. Epub 2017 Jul 27.

Department of Neurology, Hospital Ramón y Cajal, Madrid, Spain.

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http://dx.doi.org/10.1111/jns.12227DOI Listing
September 2017

PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.

Mov Disord Clin Pract 2017 Jan-Feb;4(1):129-131. Epub 2016 Nov 4.

Servicio de Neurobiología-Investigación Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS) Madrid Spain.

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http://dx.doi.org/10.1002/mdc3.12419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353338PMC
November 2016

Liver growth factor as a tissue regenerating factor in neurodegenerative diseases.

Recent Pat CNS Drug Discov 2014 ;9(3):173-80

Servicio de Neurobiologia- Investigacion, Instituto Ramon y Cajal de Investigacion Sanitaria (IRYCIS). Madrid, 28034, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485410PMC
http://dx.doi.org/10.2174/1574889809666141224123303DOI Listing
November 2015

Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.

BMC Med Inform Decis Mak 2012 Jul 31;12:78. Epub 2012 Jul 31.

Department of Electronics and Computer Science, University of Santiago de Compostela, Edificio Monte da Condesa, Spain.

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http://dx.doi.org/10.1186/1472-6947-12-78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444309PMC
July 2012

[Whole genome sequencing: a qualitative leap forward in genetic studies].

Rev Neurol 2012 Jun;54(11):692-8

Servicio de Neurología, Hospital Universitario Ramón y Cajal, Madrid, España.

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June 2012

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.

Muscle Nerve 2012 Apr;45(4):605-10

Servicio de Neurologia, Hospital Ramon y Cajal and Universidad de Alcala, 28034 Madrid, Spain.

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http://dx.doi.org/10.1002/mus.22324DOI Listing
April 2012

Neurophysiological study in cerebrotendinous xanthomatosis.

Muscle Nerve 2011 Apr;43(4):531-6

Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain.

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http://dx.doi.org/10.1002/mus.21905DOI Listing
April 2011

A short neuropsychologic and cognitive evaluation of frontotemporal dementia.

Clin Neurol Neurosurg 2009 Apr 4;111(3):251-5. Epub 2008 Dec 4.

Neurology Department, Hospital Fernando Fonseca, Estrada IC-19, 2720 Amadora, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.clineuro.2008.10.012DOI Listing
April 2009

Translating genetic findings into therapy in Parkinson disease.

Recent Pat CNS Drug Discov 2007 Nov;2(3):229-37

Sección de Neurología, Hospital la Mancha Centro, Alcazar de San Juan, Spain.

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http://dx.doi.org/10.2174/157488907782411747DOI Listing
November 2007

Variability of age at onset in siblings with familial Alzheimer disease.

Arch Neurol 2007 Dec;64(12):1743-8

Department of Neurology, Fundación Jiménez Díaz, Avda Reyes Católicos 2, 28040, Madrid, Spain.

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http://dx.doi.org/10.1001/archneur.64.12.1743DOI Listing
December 2007

Histocompatibility class I and II antigens in extensive kindred with Sneddon's syndrome and related hypercoagulation disorders.

Hum Immunol 2007 Jan 16;68(1):26-9. Epub 2006 Nov 16.

S. de Neurología, Hospital Insular, Las Palmas, Spain.

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http://dx.doi.org/10.1016/j.humimm.2006.10.015DOI Listing
January 2007

Oculo-auricular phenomenon secondary to vestibular dysfunction.

Mov Disord 2002 Nov;17(6):1394-5

S. de Neurología, Hospital Ramón y Cajal, Madrid, Spain.

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http://dx.doi.org/10.1002/mds.10239DOI Listing
November 2002