Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

Autor: Gutiérrez Gutiérrez, G. ^*, Díaz-Manera, J., Almendrote, M., Azriel, S., Eulalio Bárcena, J., Cabezudo García, P., Camacho Salas, A., Casanova Rodríguez, C., Cobo, A.M., Díaz Guardiola, P., Fernández-Torrón, R., Gallano Petit, M.P., García Pavía, P., Gómez Gallego, M., Gutiérrez Martínez, A.J., Jericó, I., Kapetanovic García, S., López de Munaín Arregui, A., Martorell, L., Morís de la Tassa, G., Moreno Zabaleta, R., Muñoz-Blanco, J.L., Olivar Roldán, J., Pascual Pascual, S.I., Peinado Peinado, R., Pérez, H., Poza Aldea, J.J., Rabasa, M., Ramos, A., Rosado Bartolomé, A., Rubio Pérez, M.Á., Urtizberea, J.A., Zapata-Wainberg, G., Gutiérrez-Rivas, E.

Publikováno v: In Neurología (English Edition) April 2020 35(3):185-206

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Autor: Iruzubieta P; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; Department of Neurology, Donostia University Hospital, Osakidetza Basque Health Service, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain., Damborenea A; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain., Ioghen M; Clinical Neurosciences Department, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Paediatric Neurology, 020021 Bucharest, Romania., Bajew S; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain., Fernandez-Torrón R; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; Department of Neurology, Donostia University Hospital, Osakidetza Basque Health Service, 20014 San Sebastián, Spain., Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, NE4 5NR Newcastle Upon Tyne, UK., Herrero-Reiriz Á; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain., Epure D; Department of Paediatric Neurology, Doctor Victor Gomoiu Children's Hospital, 022102 Bucharest, Romania., Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU University Hospital, Ludwig-Maximilians-University Munich, 80539 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Hernández-Laín A; Neuropathology Unit, Department of Pathology, 12 de Octubre University Hospital, 28041 Madrid, Spain.; Department of Neuro-oncology, Instituto de Investigación Sanitaria imas12, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Universidad Complutense de Madrid, Facultad de Medicina, 28040 Madrid, Spain., Manterola M; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain., Azkargorta M; Proteomics Platform, CIC bioGUNE, Basque Research and Technology Alliance (BRTA), 48160 Derio, Spain.; Centre for the Study of Liver and Gastrointestinal Diseases (CIBERehd), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain., Pikatza-Menoio O; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain., Pérez-Fernandez L; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; Center for Cooperative Research in Biomaterials (CIC biomaGUNE), Basque Research and Technology Alliance (BRTA), 20014 San Sebastián, Spain., García-Puga M; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain., Gaina G; Department of Cell Biology, Neurosciences and Experimental Myology, Victor Babes National Institute of Pathology, 050096 Bucharest, Romania., Bastian A; Department of Pathology, Colentina Clinical Hospital, 020125 Bucharest, Romania., Streata I; Human Genomics Laboratory, Regional Centre of Medical Genetics, Craiova University of Medicine and Pharmacy, 200349 Dolj, Romania., Walter MC; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-University Munich, 80539 Munich, Germany., Müller-Felber W; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Thiele S; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig-Maximilians-University Munich, 80539 Munich, Germany., Moragón S; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain., Bastida-Lertxundi N; Department of Clinical Genetics, Donostia University Hospital, Osakidetza Basque Health Service, 20014 San Sebastián, Spain., López-Cortajarena A; Center for Cooperative Research in Biomaterials (CIC biomaGUNE), Basque Research and Technology Alliance (BRTA), 20014 San Sebastián, Spain.; Ikerbasque, Basque Foundation for Science, 48009 Bilbao, Spain., Elortza F; Proteomics Platform, CIC bioGUNE, Basque Research and Technology Alliance (BRTA), 48160 Derio, Spain.; Centre for the Study of Liver and Gastrointestinal Diseases (CIBERehd), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain., Gereñu G; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain.; Ikerbasque, Basque Foundation for Science, 48009 Bilbao, Spain., Alonso-Martin S; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, NE4 5NR Newcastle Upon Tyne, UK., de Sancho D; Donostia International Physics Center, 20018 San Sebastián, Spain.; Faculty of Chemistry, University of the Basque Country, 20018 San Sebastián, Spain., Teleanu R; Clinical Neurosciences Department, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Paediatric Neurology, 020021 Bucharest, Romania., López de Munain A; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; Department of Neurology, Donostia University Hospital, Osakidetza Basque Health Service, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain.; Faculty of Medicine, University of the Basque Country, 20014 San Sebastián, Spain.; Faculty of Medicine, University of Deusto, 48007 Bilbao, Spain., Blázquez L; Department of Neurosciences, Biogipuzkoa Health Research Institute, 20014 San Sebastián, Spain.; CIBERNED, ISCIII (CIBER, Carlos III Institute, Spanish Ministry of Sciences and Innovation), 28031, Madrid, Spain.; Ikerbasque, Basque Foundation for Science, 48009 Bilbao, Spain.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2867-2883.

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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Autor: Gutiérrez-Rivas, E. ^*, Bautista, J., Vílchez, J.J., Muelas, N., Díaz-Manera, J., Illa, I., Martínez-Arroyo, A., Olivé, M., Sanz, I., Arpa, J., Fernández-Torrón, R., López de Munáin, A., Jiménez, L., Solera, J., Lukacs, Z.

Publikováno v: In Neuromuscular Disorders July 2015 25(7):548-553

21181. RESONANCIA MUSCULAR COMO HERRAMIENTA DIAGNÓSTICA EN LA ENFERMEDAD DE EMERY-DREIFUSS: A RAÍZ DE UN CASO

Autor: Albajar Gómez, I., Núñez Manjarres, G., Iruzubieta Agudo, P., López Moreno, Y., Bernabeu Follana, A., Escobar Padilla, A., Lijerón Farel, S., Álvarez Agoues, K., Ayuso García, D., Fernández Torrón, R., Maneiro Vicente, M., Olasagasti Calzacorta, V., López de Munain Arregui, A., Croitoru, I., Sáez Villaverde, R., Poza Aldea, J., Alustiza Echeverría, J.

Publikováno v: In Neurology Perspectives November 2024 4 Supplement 1:233-233