Publications by authors named "Adolfo López de Munain"

100Publications

Neurodegeneration trajectory in pediatric and adult/late DM1: A follow-up MRI study across a decade.

Ann Clin Transl Neurol 2020 Oct 2;7(10):1802-1815. Epub 2020 Sep 2.

Personality, Assessment and psychological treatment department; Psychology Faculty, University of the Basque Country (UPV/EHU), San Sebastián, Gipuzkoa, Spain.

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http://dx.doi.org/10.1002/acn3.51163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545612PMC
October 2020

Clinical and preclinical evidence of somatosensory involvement in amyotrophic lateral sclerosis.

Br J Pharmacol 2020 Jul 16. Epub 2020 Jul 16.

Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1111/bph.15202DOI Listing
July 2020

Toxicity of Necrostatin-1 in Parkinson's Disease Models.

Antioxidants (Basel) 2020 Jun 15;9(6). Epub 2020 Jun 15.

Depto. Bioquímica y Biología Molecular y Genética, Facultad de Enfermería y Terapia Ocupacional, Universidad de Extremadura Avda de la Universidad s/n, 10003 Cáceres, Spain.

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http://dx.doi.org/10.3390/antiox9060524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7346148PMC
June 2020

Amyotrophic lateral sclerosis (ALS), cancer, autoimmunity and metabolic disorders: An unsolved tantalizing challenge.

Br J Pharmacol 2020 Jun 4. Epub 2020 Jun 4.

Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1111/bph.15151DOI Listing
June 2020

Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis.

Neural Regen Res 2020 Nov;15(11):2043-2044

Centro de Investigación en Red de Enfermedades Neurodegenerativas, Instituto Carlos III, Madrid; Neurosciences Area, Biodonostia Research Institute; Service of Neurology, Hospital Universitario Donostia; Department of Neurosciences, School of Medicine and Nursery, University of the Basque Country, San Sebastián, Spain.

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http://dx.doi.org/10.4103/1673-5374.282257DOI Listing
November 2020

Myotonic Dystrophy type 1 cells display impaired metabolism and mitochondrial dysfunction that are reversed by metformin.

Aging (Albany NY) 2020 04 8;12(7):6260-6275. Epub 2020 Apr 8.

Cellular Oncology Group, Biodonostia Health Research Institute, San Sebastian, Spain.

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http://dx.doi.org/10.18632/aging.103022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185118PMC
April 2020

The Discovery of the Dardarin Gene 15 Years Later: A Globalized Local History.

Mov Disord 2020 04;35(4):708

Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas, Institute Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1002/mds.27969DOI Listing
April 2020

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Neurology 2020 03 18;94(11):e1171-e1180. Epub 2020 Feb 18.

From the Neuromuscular Diseases Unit, Department of Neurology (E.C.-V., R.Á.-V., R.R.-G., J.D.-M., L.Q., E.G., I.I.), Hospital de la Santa Creu i Sant Pau; Department of Medicine (E.C.-V., R.Á.-V., I.I.), Universitat Autònoma de Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (E.C.-V., R.Á.-V., S.S., C.C., T.S., R.R.-G., J.D.-M., L.Q., E.G., I.I.) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (C.P., A.L.d.M., A.L.P.-N.), Instituto de Salud Carlos III, Madrid; Neurology Department (C.P., B.V.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla; Unitat de Neuromuscular (C.C., M.A.A.), Neurology Department, Hospital Universitari de Bellvitge-IDIBELL, l'Hospitalet de Llobregat, Barcelona; Neuromuscular Diseases Unit (A.-G.S., L.G.), Department of Neurology, Institute of Neurosciences, Hospital Universitario Clínico San Carlos, Madrid; Neurology Department (J.P., T.G.-S.), Hospital Clínico, Santiago de Compostela; Neuromuscular Diseases Unit (A.R.-F., A.M.-P.), Department of Neurology, Hospital Germans Trias i Pujol; Department of Medicine (A.R.-F.), Universitat Autònoma de Barcelona, Badalona; Neuromuscular Unit (T.S., A.L.-M.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Medicine (T.S.), Universitat de València; Neurology Department (A.L.d.M., A.F.-T.), Donostia University Hospital; Neurosciences Area (A.L.d.M.), Biodonostia Research Institute, University of the Basque Country, San Sebastián; Neurology Department (M.T.G.), Hospital Universitario Reina Sofía, Córdoba; Department of Neurology (I.J.), Complejo Hospitalario de Navarra, Pamplona; Neuromuscular Diseases Unit (G.G.-G.), Department of Neurology, Hospital Universitario Infanta Sofía, Universidad Europea de Madrid, San Sebastián de los Reyes, Madrid; Complejo asistencial hospitalario de Burgos (M.A.M.), Burgos; Hospital Universitario de Gran Canaria Doctor Negrín (M.D.M.), Las Palmas de Gran Canaria; Hospital Central de Asturias (G.M.), Oviedo; and Service of Neurology (A.L.P.-N., Á.C.-A.), University Hospital "Marqués de Valdecilla (IDIVAL)," University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000008903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220233PMC
March 2020

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:
Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege

Acta Neuropathol 2020 05;139(5):959-962

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02107-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7181435PMC
May 2020

ALS-derived fibroblasts exhibit reduced proliferation rate, cytoplasmic TDP-43 aggregation and a higher susceptibility to DNA damage.

J Neurol 2020 May 14;267(5):1291-1299. Epub 2020 Jan 14.

Centro de Investigación en Red de Enfermedades Neurodegenerativas, CIBERNED. Instituto Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1007/s00415-020-09704-8DOI Listing
May 2020

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

Ann Clin Transl Neurol 2020 01 18;7(1):105-111. Epub 2019 Dec 18.

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/acn3.50967DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952318PMC
January 2020

Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.

Ann Clin Transl Neurol 2020 01 5;7(1):126-131. Epub 2019 Dec 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/acn3.50954DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6952307PMC
January 2020

Regional brain atrophy in gray and white matter is associated with cognitive impairment in Myotonic Dystrophy type 1.

Neuroimage Clin 2019 6;24:102078. Epub 2019 Nov 6.

Neuroscience Area, Biodonostia Research Institute, San Sebastián, Gipuzkoa, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Institute Carlos III, Madrid, Spain; Personality, Assessment and psychological treatment department; Psychology Faculty, University of the Basque Country (UPV/EHU), San Sebastian, Gipuzkoa, Spain.

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http://dx.doi.org/10.1016/j.nicl.2019.102078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861566PMC
September 2020

Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models.

Proc Natl Acad Sci U S A 2019 12 21;116(50):25203-25213. Epub 2019 Nov 21.

Translational Genomics Group, Incliva Health Research Institute, 46010 Valencia, Spain;

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http://dx.doi.org/10.1073/pnas.1820297116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911202PMC
December 2019

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

Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with Mutations.

Int J Mol Sci 2019 Sep 13;20(18). Epub 2019 Sep 13.

Biodonostia, Neurosciences Area, Group of Neuromuscular Diseases, 20014 San Sebastian, Spain.

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http://dx.doi.org/10.3390/ijms20184548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770289PMC
September 2019

Gene Correction of LGMD2A Patient-Specific iPSCs for the Development of Targeted Autologous Cell Therapy.

Mol Ther 2019 12 28;27(12):2147-2157. Epub 2019 Aug 28.

Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA; Stem Cell Institute, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2019.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904833PMC
December 2019

RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits.

Hum Mol Genet 2019 11;28(21):3552-3568

Institute of Parasitology and Biomedicine 'López-Neyra', Consejo Superior de Investigaciones Científicas (CSIC), Avda del Conocimiento s/n, Granada 18016, Spain.

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http://dx.doi.org/10.1093/hmg/ddz201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927464PMC
November 2019

Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study.

J Neuropsychol 2020 03 13;14(1):121-134. Epub 2019 Aug 13.

Neuroscience Area, Biodonostia Health Research Institute, Donostia-San Sebastian, Gipuzkoa, Spain.

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http://dx.doi.org/10.1111/jnp.12192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078919PMC
March 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

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:
Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege

Acta Neuropathol 2019 08 27;138(2):237-250. Epub 2019 May 27.

Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02026-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660501PMC
August 2019

Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach.

Neural Regen Res 2019 Feb;14(2):193-196

CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), Madrid; Neurosciences Area, Institute Biodonostia; Department of Neurology, University Hospital Donostia, San Sebastián, Spain; Department of Neurosciences, University of the Basque Country, Universidad País Vasco-Euskal Herria Unibertsitatea, San Sebastián, Spain.

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http://dx.doi.org/10.4103/1673-5374.244783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6301158PMC
February 2019

Longitudinal Neuropsychological Study of Presymptomatic c.709-1G>A Progranulin Mutation Carriers.

J Int Neuropsychol Soc 2019 01 29;25(1):39-47. Epub 2018 Oct 29.

1Cognitive Disorders Unit,Department of Neurology,Donostia University Hospital,Paseo Dr Begiristain sn,CP 20014,San Sebastian,Gipuzkoa,Spain.

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http://dx.doi.org/10.1017/S1355617718000735DOI Listing
January 2019

Social cognition in myotonic dystrophy type 1: Specific or secondary impairment?

PLoS One 2018 24;13(9):e0204227. Epub 2018 Sep 24.

Neuroscience Area, Biodonostia Research Institute, Donostia-San Sebastian, Gipuzkoa, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204227PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152965PMC
March 2019

Copy number variation analysis increases the diagnostic yield in muscle diseases.

Neurol Genet 2017 Dec 11;3(6):e204. Epub 2017 Dec 11.

Folkhälsan Institute of Genetics (S.V., M.S., M.J., L.S., M.A., K.K., K.P., B.U., P.H.), Medicum, Faculty of Biological and Environmental Sciences (K.P.), University of Helsinki, Finland; Neuromuscular Research Center (B.U.), Tampere University and University Hospital, Finland; Department of Neurology (B.U.), Vaasa Central Hospital, Finland; Biodonostia Health Research Institute (A.S., A.L.D.M), Neurosciences Area, CIBERNED, University of the Basque Country, San Sebastián, Spain; and Centre de Référence Maladies Neuromusculaires (GNMH) (A.-M.C.), Hôpital Marin APHP, Hendaye, France.

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http://dx.doi.org/10.1212/NXG.0000000000000204DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140371PMC
December 2017

Clinical evidences supporting the Src/c-Abl pathway as potential therapeutic target in amyotrophic lateral sclerosis.

J Neurol Sci 2018 10 11;393:80-82. Epub 2018 Aug 11.

CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases), Ministry of Economy and Competitiveness, Institute Carlos III, Madrid, Spain; Neurosciences Area, Institute Biodonostia, San Sebastián, Spain; Department of Neurology, University Hospital Donostia, San Sebastián, Spain; Department of Neurosciences, University of the Basque Country UPV-EHU, San Sebastián, Spain.

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http://dx.doi.org/10.1016/j.jns.2018.08.013DOI Listing
October 2018

Retinoids and Amyotrophic Lateral Sclerosis.

JAMA Neurol 2018 09;75(9):1153

Department of Neurology, University Hospital Donostia, Biodonostia Health Research Institute, CIBERNED, San Sebastián, Spain.

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http://dx.doi.org/10.1001/jamaneurol.2018.2242DOI Listing
September 2018

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Muscle Nerve 2018 12 18;58(6):812-817. Epub 2018 Nov 18.

APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France.

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http://doi.wiley.com/10.1002/mus.26312
Publisher Site
http://dx.doi.org/10.1002/mus.26312DOI Listing
December 2018

Impaired Mitophagy and Protein Acetylation Levels in Fibroblasts from Parkinson's Disease Patients.

Mol Neurobiol 2019 Apr 21;56(4):2466-2481. Epub 2018 Jul 21.

Departamento de Bioquímica y Biología Molecular y Genética. Facultad de Enfermería y Terapia Ocupacional, Universidad de Extremadura, Avda. de la Universidad s/n, 10003, Cáceres, Spain.

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http://dx.doi.org/10.1007/s12035-018-1206-6DOI Listing
April 2019

The panniculus carnosus muscle: an evolutionary enigma at the intersection of distinct research fields.

J Anat 2018 Jun 12. Epub 2018 Jun 12.

Tissue Engineering Group, Bioengineering Area, Instituto Biodonostia, San Sebastian, Spain.

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http://dx.doi.org/10.1111/joa.12840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081499PMC
June 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

The increasing importance of environmental conditions in amyotrophic lateral sclerosis.

Int J Biometeorol 2018 Aug 30;62(8):1361-1374. Epub 2018 Apr 30.

Toxicology Unit, Physiology and Farmacology Department, University of Cantabria-IDIVAL, Santander, Spain.

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http://dx.doi.org/10.1007/s00484-018-1550-2DOI Listing
August 2018

Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis.

Expert Rev Mol Med 2017 06 9;19:e7. Epub 2017 Jun 9.

Neurosciences Area, Biodonostia Institute, Donostia Hospital,San Sebastian,Spain.

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http://dx.doi.org/10.1017/erm.2017.9DOI Listing
June 2017

Nontraditional Lipid Variables Predict Recurrent Brain Ischemia in Embolic Stroke of Undetermined Source.

J Stroke Cerebrovasc Dis 2017 Aug 13;26(8):1670-1677. Epub 2017 Apr 13.

Department of Neurology, University Hospital Donostia, San Sebastián, Spain; Faculty of Medicine, University of the Basque Country, Leioa, Spain.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2017.03.024DOI Listing
August 2017

FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.

Expert Rev Mol Med 2017 03 16;19:e2. Epub 2017 Mar 16.

Neurosciences Area,Biodonostia Health Research Institute,San Sebastián,Spain.

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http://dx.doi.org/10.1017/erm.2017.3DOI Listing
March 2017

Mutations in LRRK2 impair NF-κB pathway in iPSC-derived neurons.

J Neuroinflammation 2016 11 18;13(1):295. Epub 2016 Nov 18.

Laboratory of Stem Cells and Neural Repair, Inbiomed, Paseo Mikeletegi, 81, E-20009, San Sebastian, Spain.

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http://dx.doi.org/10.1186/s12974-016-0761-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116223PMC
November 2016

Dominant LGMD2A: alternative diagnosis or hidden digenism?

Brain 2017 02 5;140(2):e7. Epub 2016 Nov 5.

Neurosciences Area, Biodonostia Health Research Institute, San Sebastian, Spain

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http://dx.doi.org/10.1093/brain/aww281DOI Listing
February 2017

Association of lifestyle, inflammatory factors, and dietary patterns with the risk of suffering a stroke: A case-control study.

Nutr Neurosci 2018 Jan 7;21(1):70-78. Epub 2016 Sep 7.

a Department of Food Science and Physiology , University of Navarra , Irunlarrea s/n 31008 , Pamplona , Spain.

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http://dx.doi.org/10.1080/1028415X.2016.1226473DOI Listing
January 2018

Identification and Characterization of the Dermal Panniculus Carnosus Muscle Stem Cells.

Stem Cell Reports 2016 09 1;7(3):411-424. Epub 2016 Sep 1.

Tissue Engineering Laboratory, Bioengineering Area, Instituto Biodonostia, San Sebastián 20014, Spain; Department of Biomedical Engineering, School of Engineering, Tecnun-University of Navarra, San Sebastián 20009, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2016.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5032673PMC
September 2016

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Neurology 2016 Sep 24;87(12):1250-7. Epub 2016 Aug 24.

From the Neuromuscular Unit, Neurology Department (R.F.-T., M.M., J.-J.P., J.-B.E., A.L.d.M.), and Department of Pathology (I.R.), Donostia Universitary Hospital, San Sebastian; Neurosciences Area (R.F.-T., M.Z., D.O., A.L.d.M.) and Oncology Area (M.G.-P., A.M.), Biodonostia Institute, San Sebastian; Center for Biomedical Research Network in Neurodegenerative Diseases (CIBERNED) (R.F.-T., A.L.d.M.), Institute Carlos III, Ministry of Economy and Competitiveness; Clinical Epidemiology Unit (J.-I.E.), Donostia Universitary Hospital, CIBER-ESP, San Sebastian, Spain; Neuromuscular Area (A.-M.C.), AP-HP Hôpital Marin de Hendaye, France; Molecular Genetics Section (L.M.), Hospital Sant Joan de Deu, Barcelona; and Department of Neurosciences (A.L.d.M.), University of the Basque Country, UPV/EHU, San Sebastian, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000003124DOI Listing
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

Editorial: Role of Stem Cells in Skeletal Muscle Development, Regeneration, Repair, Aging, and Disease.

Front Aging Neurosci 2016 28;8:95. Epub 2016 Apr 28.

Tissue Engineering Laboratory, Bioengineering Area, Instituto Biodonostia, Hospital Universitario Donostia San Sebastian, Spain.

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http://dx.doi.org/10.3389/fnagi.2016.00095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4848289PMC
May 2016

A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.

Ophthalmic Res 2016 5;56(3):123-31. Epub 2016 May 5.

Division of Neurosciences, Instituto Biodonostia, Donostia-San Sebastián, Spain.

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http://dx.doi.org/10.1159/000445690DOI Listing
January 2017

Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia.

Mol Neurodegener 2016 04 30;11(1):36. Epub 2016 Apr 30.

Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas (CSIC), Ramiro de Maeztu 9, 28040, Madrid, Spain.

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http://dx.doi.org/10.1186/s13024-016-0102-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852436PMC
April 2016

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Neurobiol Aging 2016 Feb 5;38:215.e13-215.e14. Epub 2015 Nov 5.

Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.030DOI Listing
February 2016

Progranulin deficiency induces overactivation of WNT5A expression via TNF-α/NF-κB pathway in peripheral cells from frontotemporal dementia-linked granulin mutation carriers.

J Psychiatry Neurosci 2016 06;41(4):225-39

From the Department of Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas (CSIC) Madrid (Alquézar, de la Encarnación, Martín-Requero); the Neuroscience Area-Instituto Biodonostia, Hospital Universitario Donostia, San Sebastian, Spain (Moreno, López de Munain); the Department of Neurology, Hospital Donostia, San Sebastian, Spain (Moreno); the Department of Neurosciences, University of Basque Country, San Sebastian, Spain (López de Munain); the CIBER de Enfermedades Neurodegenerativas (CIBERNED) (López de Munain) and the CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (Martín-Requero).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915932PMC
http://dx.doi.org/10.1503/jpn.150131DOI Listing
June 2016

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Neuromuscul Disord 2016 Jan 22;26(1):33-40. Epub 2015 Oct 22.

Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.

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http://dx.doi.org/10.1016/j.nmd.2015.10.001DOI Listing
January 2016

Age gene expression and coexpression progressive signatures in peripheral blood leukocytes.

Exp Gerontol 2015 Dec 8;72:50-6. Epub 2015 Sep 8.

Multiple Sclerosis and Neuromuscular Diseases Groups, Neurosciences Area, Biodonostia Health Research Institute, Donostia/San Sebastián, Spain; Neurology Department, Donostia University Hospital, Donostia/San Sebastián, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.exger.2015.09.003DOI Listing
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
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http://dx.doi.org/10.1177/1759091415598290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550298PMC
March 2016

Muscle wasting in myotonic dystrophies: a model of premature aging.

Front Aging Neurosci 2015 9;7:125. Epub 2015 Jul 9.

Neuroscience Area, Biodonostia Health Research Institute San Sebastián, Spain ; CIBERNED, Instituto Carlos III, Ministerio de Economía y Competitividad Madrid, Spain ; Department of Neurology, Hospital Universitario Donostia, San Sebastián Spain ; Department of Neuroscience, Universidad del País Vasco UPV-EHU San Sebastián, Spain.

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http://dx.doi.org/10.3389/fnagi.2015.00125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496580PMC
July 2015

Costamere proteins and their involvement in myopathic processes.

Expert Rev Mol Med 2015 Jun 19;17:e12. Epub 2015 Jun 19.

Neurosciences Area,BioDonostia Institute,Paseo Dr. Begiristain s/n,20014 San Sebastián,Spain.

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http://www.journals.cambridge.org/abstract_S1462399415000095
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http://dx.doi.org/10.1017/erm.2015.9DOI Listing
June 2015

Rapidly Reversible Winging Scapula.

Arthritis Rheumatol 2015 Sep;67(9):2502

Donostia University Hospital, Donostia-San Sebastian, Spain.

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http://doi.wiley.com/10.1002/art.39202
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http://dx.doi.org/10.1002/art.39202DOI Listing
September 2015

Ventricular tachycardia on chronic fingolimod treatment for multiple sclerosis.

J Neurol Neurosurg Psychiatry 2015 Aug 2;86(8):931-2. Epub 2015 Apr 2.

Multiple Sclerosis Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Spain Department of Neuroscience Area, Biodonostia Research Institute, San Sebastian, Spain.

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http://dx.doi.org/10.1136/jnnp-2014-310013DOI Listing
August 2015

Increasing progranulin levels and blockade of the ERK1/2 pathway: upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia.

Eur Neuropsychopharmacol 2015 Mar 5;25(3):386-403. Epub 2015 Jan 5.

Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas (CSIC), Madrid, Spain; CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.euroneuro.2014.12.007DOI Listing
March 2015

Neurogenetic disorders in the Basque population.

Ann Hum Genet 2015 Jan 1;79(1):57-75. Epub 2014 Dec 1.

Department of Neurology at Hospital Universitario Donostia (San Sebastián, Guipúzcoa), Basque Health Service (Osakidetza), Basque Country, Spain; Department of Neurosciences, University of Basque Country (UPV-EHU); Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED); Carlos III Health Institute, Ministry of Economy and Competitiveness, Spain; BioDonostia Institute, San Sebastián, Guipúzcoa; JAKIUNDE, Academia de las Ciencias, de las Artes y de las Letras.

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http://dx.doi.org/10.1111/ahg.12088DOI Listing
January 2015

Obesity and ischemic stroke modulate the methylation levels of KCNQ1 in white blood cells.

Hum Mol Genet 2015 Mar 4;24(5):1432-40. Epub 2014 Nov 4.

Department of Nutrition, Food Sciences and Physiology, Centre for Nutrition Research, University of Navarra, Pamplona, Spain, CIBER Fisiopatología Obesidad y Nutrición (CIBERObn), Ministry of Economy and Competitiveness, Instituto de Salud Carlos III, Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddu559DOI Listing
March 2015