Roberto Fernandez-Torron

Roberto Fernandez-Torron

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Roberto Fernandez-Torron

Roberto Fernandez-Torron

Publications by authors named "Roberto Fernandez-Torron"

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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

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

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

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry.

J Neurol 2016 Jul 9;263(7):1401-8. Epub 2016 May 9.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00415-016-8132-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929161PMC
July 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

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

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

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

Leptomeningeal carcinomatosis: prognostic value of clinical, cerebrospinal fluid, and neuroimaging features.

Clin Neurol Neurosurg 2013 Jan 23;115(1):19-25. Epub 2012 Apr 23.

Department of Neurology and Neurosurgery, University Clinic of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1016/j.clineuro.2012.03.048DOI Listing
January 2013

Pearls & oy-sters: ocular ischemic syndrome.

Neurology 2012 Sep;79(11):e92-4

Department of Neurology, University Clinic of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1212/WNL.0b013e3182698d14DOI Listing
September 2012

Refractory migraine in a headache clinic population.

BMC Neurol 2011 Aug 1;11:94. Epub 2011 Aug 1.

Department of Neurology, Headache Unit, University Clinic of Navarra, Av, Pio XII, 36, Pamplona 31008, Spain.

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http://dx.doi.org/10.1186/1471-2377-11-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163184PMC
August 2011

Neurologic complications of intrathecal liposomal cytarabine administered prophylactically to patients with non-Hodgkin lymphoma.

J Neurooncol 2011 Jul 17;103(3):603-9. Epub 2010 Oct 17.

Department of Neurology and Neurosurgery, Clínica Universidad de Navarra, Avda. Pío XII, 36, Pamplona 31008, Spain.

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http://dx.doi.org/10.1007/s11060-010-0428-xDOI Listing
July 2011

Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodies.

Neuromuscul Disord 2011 Feb 5;21(2):126-8. Epub 2010 Nov 5.

Department of Neurology, Clínica Universidad de Navarra, Avda. Pio XII 36, 31008 Pamplona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2010.10.003DOI Listing
February 2011

[Chronic migraine and abuse of analgesics].

Rev Neurol 2010 Dec;51(11):703-4; author reply 704

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December 2010

Extrapyramidal syndrome related to lithium-carbamazepine combination therapy at therapeutic serum levels.

Clin Neuropharmacol 2010 Mar-Apr;33(2):102-3

Department of Neurology and Neurosurgery, University Clinic of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1097/WNF.0b013e3181cbf83fDOI Listing
July 2010