Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Llona JE"'
Autor:
Galán Dávila L; Neurology Department, Hospital Clínico San Carlos, IdISSC, Madrid, Spain., Martinez Valle F; Internal Medicine Department, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Buades Reinés J; Internal Medicine Department, Hospital Universitario Son Llàtzer, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis, Instituto de Investigación Sanitaria de las Islas Baleares (IdISBa), Palma, Spain., Gonzalez-Moreno J; Internal Medicine Department, Hospital Universitario Son Llàtzer, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis, Instituto de Investigación Sanitaria de las Islas Baleares (IdISBa), Palma, Spain., Losada López I; Internal Medicine Department, Hospital Universitario Son Llàtzer, Palma, Spain.; Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis, Instituto de Investigación Sanitaria de las Islas Baleares (IdISBa), Palma, Spain., Sevilla T; Neurology Department, Hospital Universitari i Politècnic La Fe & IIS La Fe, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neurology Department, Universitat de València, Valencia, Spain., Muñoz Beamud F; Internal Medicine Department, Hospital Universitario Juan Ramón Jiménez, Huelva, Spain., Bárcena Llona JE; Neurology Department, Hospital Universitario Cruces, Barakaldo, Bizkaia, Spain., Romero Acebal M; Neurology Department, Hospital Universitario Virgen de la Victoria, Málaga, Spain., Setaro F; Pfizer S.L.U., Madrid, Spain., Primiano D; Pfizer S.L.U., Madrid, Spain., Tarilonte P; Pfizer S.L.U., Madrid, Spain. Patricia.Tarilonte@pfizer.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 06; Vol. 19 (1), pp. 323. Date of Electronic Publication: 2024 Sep 06.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Autor:
Martinez-Marin RJ; NeuService, Hospital La Paz Institute for Health Research - IdiPAZ (La Paz University Hospital - Universidad Autónoma de Madrid, Madrid, Spain., Reyes-Leiva D; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Nascimento A; Servicio de Neuropediatría, CIBERER, ERN-NMD, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Spain., Muelas N; CIBERER, Spain; Neurology Service, Hospital La Fe de Valencia, Valencia, Spain., Dominguez-González C; CIBERER, Spain; Neurology Service, Hospital 12 de Octubre, imas12 Research Institute, ERN-NMD, Madrid, Spain., Paradas C; Neurology Service, Hospital Virgen del Rocío, Sevilla, Spain., Olivé M; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain; Neuromuscular Diseases Unit, Neurology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., García-Romero M; Neuropaediatrics Service, Hospital Universitario La Paz, Madrid, Spain., Pascual-Pascual SI; Neuropaediatrics Service, Hospital Universitario La Paz, Madrid, Spain., Grau JM; Internal Medicine Service, Hospital Clínic de Barcelona, Barcelona, Spain., Barba-Romero MA; Internal Medicine Service, Hospital Universitario General de Albacete, Albacete, Spain., Gomez-Caravaca MT; Neurology Service, Hospital Reina Sofía de Córdoba, Córdoba, Spain., de Las Heras J; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute and University of the Basque Country (UPV/EHU), Barakaldo, Spain., Casquero P; Neurology Service, Hospital Mateu Orfila, Menorca, Spain., Mendoza MD; Neurology Service, Hospital Dr Negrín, Gran Canaria, Spain., de León JC; Neurology Service, Hospital Universitario Nuestra Señora de la Candelaria, Tenerife, Spain., Gutierrez A; Neurology Service, Hospital Insular, Gran Canaria, Spain., Morís G; Neurology Service, Hospital Universitario Central de Asturias, Oviedo, Spain., Blanco-Lago R; Paediatrics Service, Hospital Universitario Central de Asturias, Oviedo, Spain., Ramos-Fransi A; Neurology Service, Hospital Universitario Germans Trias i Pujol, Badalona, Spain., Pintós G; Internal Medicine Service, Hospital Universitario Vall d'Hebron, Barcelona, Spain., García-Antelo MJ; Neurology Service, Hospital Universitario de A Coruña, A Coruña, Spain., Rabasa M; Neurology Service, Hospital Universitario de Fuenlabrada, Madrid, Spain., Morgado Y; Neurology Service, Hospital de Valme, Sevilla, Spain., Usón M; Neurology Service, Hospital Universitario Son Llatzer, Palma de Mallorca, Spain., Miralles FJ; Neurology Service, Hospital Universitario Son Espases, Palma de Mallorca, Spain., Bárcena-Llona JE; Neurology Service, Hospital Universitario de Cruces, Barakaldo, Spain., Gómez-Belda AB; Servicio de Medicina Interna, Hospital Universitario Dr Peset, Valencia, Spain., Pedraza-Hueso MI; Servicio de Neurología, Hospital Universitario de Valladolid, Valladolid, Spain., Hortelano M; Paediatric Service, Hospital Universitario de Segovia, Segovia Spain., Colomé A; Internal Medicine Service, Hospital de Terrassa, Barcelona, Spain., Garcia-Martin G; Neurology Service, Hospital Regional Universitario Carlos Haya de Málaga., Lopez de Munain A; Neurology Service, Instituto Biodonostia-CIBERNED-EHU-UPV, Hospital Universitario Donostia-OSAKIDETZA, Spain., Jericó I; Neurology Service, Complejo Hospitalario de Navarra, Spain., Galán-Dávila L; Neurology Service, Hospital Universitario Clínico San Carlos, Madrid, Spain., Pardo J; Neurology Service, Hospital Universitario de Santiago de Compostela, Santiago de Compostela. Spain., Salgueiro-Origlia G; Internal Medicine Service, Hospital La Paz Institute for Health Research - IdiPAZ (La Paz University Hospital, Universidad Autónoma de Madrid, Spain., Alonso-Pérez J; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Pla-Junca F; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Schiava M; John Walton Muscular Distrophy Research Center, Newcastle University, UK., Segovia-Simón S; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain., Díaz-Manera J; Institut de Recerca Biomedica Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; CIBERER, Spain; John Walton Muscular Distrophy Research Center, Newcastle University, UK. Electronic address: jordi.diaz-manera@newcastle.ac.uk.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 1-8. Date of Electronic Publication: 2023 Nov 13.
Autor:
Cortés-Vicente E; Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain., Rojas-Garcia R; Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain., Díaz-Manera J; Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain., Querol L; Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain., Casasnovas C; Neuromuscular Diseases Unit Department of Neurology Hospital Universitari de Bellvitge - IDIBELL L'Hospitalet de Llobregat Barcelona Spain., Guerrero-Sola A; Neuromuscular Diseases Unit Department of Neurology Hospital Universitario Clínico San Carlos Madrid Spain., Muñoz-Blanco JL; ALS-Neuromuscular Unit Department of Neurology Hospital General Universitario Gregorio Marañón IISGM Madrid Spain., Bárcena-Llona JE; Department of Neurology Hospital Universitario Cruces Baracaldo Spain., Márquez-Infante C; Neuromuscular Diseases Unit Department of Neurology and Neurophysiology Hospital Universitario Virgen del Rocío Sevilla Spain., Pardo J; Department of Neurology Hospital Clínico Santiago de Compostela Spain., Martínez-Fernández EM; Department of Neurology Hospital Juan Ramón Jiménez Huelva Spain., Usón M; Department of Neurology Hospital Son Llàtzer Palma de Mallorca Spain., Oliva-Nacarino P; Department of Neurology Hospital Universitario Central de Asturias Oviedo Spain., Sevilla T; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain.; Neuromuscular Unit Department of Neurology Hospital Universitari i Politècnic La Fe Valencia Spain.; Department of Medicine University of Valencia Valencia Spain., Illa I; Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER) Madrid Spain.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2018 Apr 14; Vol. 5 (6), pp. 710-716. Date of Electronic Publication: 2018 Apr 14 (Print Publication: 2018).
Autor:
Böhm J; Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France., Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J
Publikováno v:
Human mutation [Hum Mutat] 2012 Jun; Vol. 33 (6), pp. 949-59. Date of Electronic Publication: 2012 Apr 04.