المؤلفون: Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6

المؤلفون: Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock, Kym Mina, Rebecca Gooding, Fathimath Faiz, Vanessa J. Atkinson, Cheryl Wise, Padma Sivadorai, Daniel Trajanoski, Nina Kresoje, Royston Ong, Rachael M. Duff, Macarena Cabrera‐Serrano, Kristen J. Nowak, Nicholas Pachter, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Nigel G. Laing

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 3, Pp 353-362 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/292ffbf513d44bcfa9ab0ee755c6210c

المؤلفون: Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 11, Pp 2328-2333 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/644b26b8e03641ecb606d9aa6a025696

المؤلفون: Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/66b676bb69fb44be94c22654e712d730

المؤلفون: Macarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, Anna Vihola, Manu Jokela, Mridul Johari, Thierry Capiod, Marine Madrange, Enrico Bugiardini, Stefen Brady, Rosaline Quinlivan, Ashirwad Merve, Renata Scalco, David Hilton-Jones, Henry Houlden, Halil Ibrahim Aydin, Serdar Ceylaner, Sarah Drewes, Jerry Vockley, Rhonda L Taylor, Chiara Folland, Aasta Kelly, Hayley Goullee, Emil Ylikallio, Mari Auranen, Henna Tyynismaa, Bjarne Udd, Alistair R R Forrest, Mark R Davis, Drago Bratkovic, Nicholas Manton, Thomas Robertson, Cullen O’Gorman, Pamela McCombe, Nigel G Laing, Liza Phillips, Pascale de Lonlay, Gianina Ravenscroft

المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program, HUS Neurocenter, Neurologian yksikkö, Clinicum, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: myalgia, Adolescent, MUTATIONS, 3112 Neurosciences, Loss of Heterozygosity, LINE, Protein Serine-Threonine Kinases, MUSCLE, exercise intolerance, SARCOPLASMIC-RETICULUM, OBSCURIN, GENE, Rhabdomyolysis, MUSCULAR-DYSTROPHY, 3124 Neurology and psychiatry, Sarcoplasmic Reticulum, obscurin, ISOFORM, hyperCKaemia, rhabdomyolysis, Humans, Calcium, Neurology (clinical), Rho Guanine Nucleotide Exchange Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4bd1d51311f5e2b61ad26c923c76fc7
http://hdl.handle.net/10138/353498

المؤلفون: Macarena Cabrera-Serrano, Gianina Ravenscroft

مصطلحات موضوعية: McArdle disease, Neurology, Muscular Diseases, Muscular dystrophies, Phosphatidate Phosphatase, Genetics, Humans, Neurology (clinical), Neuromuscular disease, Exercise, Rhabdomyolysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::643d0d2078176cd25af4886b18170515
https://api.elsevier.com/content/abstract/scopus_id/85137745318

المؤلفون: Noemi de Luna, Isabel Illa, Fritz Zimprich, Fu Liong Hiew, Vera Bril, Cornelia Roesler, Romana Höftberger, Özgür Duman, Sangeeta Scotton, Elba Pascual-Goñi, Raquel Piñar-Morales, Cinta Lleixà, Laura Muñoz-Delgado, Janina Turon-Sans, Kalliopi Pitarokoili, Bart C. Jacobs, Xavier Suárez-Calvet, Olalla Albertí, Maria Angeles López-Pérez, Mercedes Usón-Martín, Darwin Segura-Chávez, Claudia Steen, Andrea Cortese, Laura Martínez-Martínez, Lorena Martín-Aguilar, Elisa Vegezzi, Julio Pardo-Fernández, Ricard Rojas-García, Marta Caballero-Ávila, Alejandra Carvajal, Yusuf A. Rajabally, Eduardo Nobile-Orazio, Giuseppe Liberatore, Adája Baars, Fabian Márquez, Jordi Diaz-Manera, Luis Querol, Manuel Bartolomé, Eduard Gallardo, Nicolau Ortiz, Macarena Cabrera-Serrano, Alicia Martínez-Piñeiro, Elena Cortés-Vicente

المساهمون: Immunology, Neurology

المصدر: Neurology-Neuroimmunology & Neuroinflammation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Instituto Cervantes
Neurol Neuroimmunol Neuroinflamm
Neurology® Neuroimmunology & Neuroinflammation
article-version (Version of Record) 3
Neurology(R) neuroimmunology & neuroinflammation, 9(1). Lippincott Williams & Wilkins

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Treatment response, Ataxia, Neurofilament light, Gastroenterology, Article, Young Adult, Autoimmune Diseases of the Nervous System, Modified Rankin Scale, Internal medicine, Ranvier's Nodes, medicine, Humans, Immunologic Factors, Nerve Growth Factors, Aged, Autoantibodies, Retrospective Studies, biology, business.industry, Autoantibody, Correction, Cell Adhesion Molecules, Female, Middle Aged, Rituximab, Titer, Neurology, biology.protein, Settore MED/26 - Neurologia, Neurology (clinical), Antibody, medicine.symptom, business, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a3ea9333489090982cb61f721798e09
http://www.scopus.com/inward/record.url?scp=85126170268&partnerID=8YFLogxK

المؤلفون: Macarena Cabrera-Serrano, Carmen Paradas, Emilia Servián-Morilla, Eloy Rivas, Fabiola Mavillard

مصطلحات موضوعية: Genetics, RNA splicing, medicine, Muscular dystrophy, Biology, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd4a0a41527f24c01e99185d52855b6
https://doi.org/10.1111/cge.13964/v3/response1

المؤلفون: Macarena Cabrera-Serrano, Gianina Ravenscroft

المصدر: Brain. 144:2560-2561

مصطلحات موضوعية: myalgia, medicine.medical_specialty, business.industry, medicine, Neurology (clinical), medicine.symptom, Myopathy, Intensive care medicine, business, medicine.disease, Rhabdomyolysis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4443c822465b8f8b91adb9d766116264
https://doi.org/10.1093/brain/awab308

المؤلفون: Emilia Servián-Morilla, Eloy Rivas, Fabiola Mavillard, Macarena Cabrera-Serrano, Carmen Paradas

المساهمون: Junta de Andalucía, Instituto de Salud Carlos III

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, Roma, RNA Splicing, Population, Roma population, Anoctamins, 030105 genetics & heredity, Biology, ANO5, Muscular Dystrophies, 03 medical and health sciences, Exon, Genetics, medicine, Humans, splice, Muscular dystrophy, Aberrant splicing, education, Genetics (clinical), education.field_of_study, Alternative splicing, Exons, Middle Aged, medicine.disease, Introns, 030104 developmental biology, RNA splicing, Mutation (genetic algorithm), Mutation, Female, RNA Splice Sites

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e29ef03402a45d8f76db5d6b05c4497
http://hdl.handle.net/10261/265806