نتائج البحث - "Ricardo Erazo-Torricelli"

1

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

المؤلفون: Perry B Shieh, Gary Elfring, Panayiota Trifillis, Claudio Santos, Stuart W Peltz, Julie A Parsons, Susan Apkon, Basil T Darras, Craig Campbell, Craig M McDonald, Richard J Barohn, Enrico Bertini, Kate Bushby, Brigitte Chabrol, Emma Ciafaloni, Jaume Columer, Giacomi Pietro Comi, Anne Connolly, Richard S Finkel, Kevin M Flanigan, Nathalie Goemans, Michela Guglieri, Susan T Iannaccone, Kristi J Jones, Petra Kaufmann, Janbernd Kirschner, Jean K Mah, Katherine Mathews, Eugenio Mercuri, Francesco Muntoni, Yoram Nevo, Andrés Nascimento Osorio, Yann Péréon, Rosaline Quinlivan, J. Ben Renfroe, Barry Russman, Monique Ryan, Jacinda Sampson, Ulrike Schara, Kathryn Selby, Thomas Sejersen, Douglas M Sproule, H. Lee Sweeney, Már Tulinius, Juan J Vilchez, Giuseppe Vita, Thomas Voit, Stephanie Burns-Wechsler, Brenda Wong, Ted Abresch, Erik K Henricson, Kim Coleman, Michelle Eagle, Julaine Florence, Ed Gappmaier, Craig McDonald, Hoda Z Abdel-Hamid, Clemens Bloetzer, Russell J Butterfield, Jong-Hee Chae, Jahannaz Dastgir, Isabelle Desguerre, Raul G Escobar, Erika Finanger, Peter Heydemann, Imelda Hughes, Anna Kaminska, Peter Karachunski, Martin Kudr, Timothy Lotze, Alexandra Prufer de Queiroz Campos Araujo, Maria Bernadete Dutra de Resende, Gihan Tennekoon, Haluk Topaloglu, Ricardo Erazo Torricelli, Lindsay N Alfano, Meredith K James, Linda Lowes, Anna Mayhew, Elena S Mazzone, Leslie Nelson, Kristy J Rose

المصدر: Paediatrics Publications

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e773db882a9b68ac18148646fe6a8d7
https://ir.lib.uwo.ca/context/paedpub/article/3206/viewcontent/843.pdf

2

International retrospective natural history study of LMNA-related congenital muscular dystrophy

المؤلفون: Gabriele Siciliano, Sonia Messina, David Gómez-Andrés, A. Reghan Foley, Luisa Politano, Pascal Sabouraud, Hirofumi Komaki, Rachel Alvarez, Adele D'Amico, Sandra Donkervoort, Pomi Yun, Vincent Laugel, Gina Norato, Hui Xiong, Lorenzo Maggi, Edmar Zanoteli, Susana Quijano-Roy, Monique M. Ryan, Thomas Voit, Gisèle Bonne, Ulrike Schara, Claudia Castiglioni, Ricardo Erazo-Torricelli, Carsten G. Bönnemann, Karin Kleinsteuber, Rabah Ben Yaou, Chiara Marini-Bettolo, Emmanuelle Lagrue, M. Mayer, Tyler Mark Pierson, Anna Sarkozy, Isabelle Desguerre, Sandra Mercier, Ivana Dabaj, Andrés Nascimento, Marta Bertoli, Nicolas Deconinck, Francesco Muntoni, Liliana Vercelli, Eugenio Mercuri, Akihiko Ishiyama, Soledad Monges, Grace Yoon, Juliana Gurgel-Giannetti

المساهمون: Institut Català de la Salut, [Ben Yaou R] Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, F-75013 Paris, France. APHP-Sorbonne Université, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Service de Neuromyologie, Institute de Myologie, G.H. Pitié-Salpêtrière Paris F-75013, France. [Yun P, Norato G, Donkervoort S] Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. [Dabaj I] APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches France. INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France. [Xiong H] INSERM U 1245, ED497, School of Medicine, Rouen University, Rouen, France. [Gómez-Andrés D] Servei de Neurologia Pediàtrica (ERN-RND - EURO-NMD), Vall d'Hebron Hospital Universitari, Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia
Brain communications, vol 3, iss 3

مصطلحات موضوعية: muscular dystrophy, Pediatrics, medicine.medical_specialty, Amino Acids, Peptides, and Proteins::Proteins::Nuclear Proteins::Nuclear Matrix-Associated Proteins::Lamins::Lamin Type A [CHEMICALS AND DRUGS], enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares [ENFERMEDADES], Intellectual and Developmental Disabilities (IDD), early onset, Medizin, LMNA, Cardiovascular, aminoácidos, péptidos y proteínas::proteínas::proteínas nucleares::proteínas asociadas a la matriz nuclear::laminas::lamina de tipo A [COMPUESTOS QUÍMICOS Y DROGAS], 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Clinical Research, medicine, Genetics, Other subheadings::Other subheadings::/genetics [Other subheadings], Muscular dystrophy, 030304 developmental biology, Pediatric, Distròfia muscular - Fisiologia patològica, 0303 health sciences, Distròfia muscular - Aspectes genètics, business.industry, Otros calificadores::Otros calificadores::/genética [Otros calificadores], laminopathies, General Engineering, Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies [DISEASES], medicine.disease, Brain Disorders, Clinical trial, Natural history, Other subheadings::Other subheadings::/pathology [Other subheadings], Musculoskeletal, Cohort, striated muscle, Congenital muscular dystrophy, Age of onset, business, Otros calificadores::Otros calificadores::/patología [Otros calificadores], 030217 neurology & neurosurgery, Natural history study, 4.2 Evaluation of markers and technologies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9472afd51351be970c9b9d192e60a7
https://www.ncbi.nlm.nih.gov/pubmed/34240052

3

International retrospective natural history study of

المؤلفون: Rabah, Ben Yaou, Pomi, Yun, Ivana, Dabaj, Gina, Norato, Sandra, Donkervoort, Hui, Xiong, Andrés, Nascimento, Lorenzo, Maggi, Anna, Sarkozy, Soledad, Monges, Marta, Bertoli, Hirofumi, Komaki, Michèle, Mayer, Eugenio, Mercuri, Edmar, Zanoteli, Claudia, Castiglioni, Chiara, Marini-Bettolo, Adele, D'Amico, Nicolas, Deconinck, Isabelle, Desguerre, Ricardo, Erazo-Torricelli, Juliana, Gurgel-Giannetti, Akihiko, Ishiyama, Karin S, Kleinsteuber, Emmanuelle, Lagrue, Vincent, Laugel, Sandra, Mercier, Sonia, Messina, Luisa, Politano, Monique M, Ryan, Pascal, Sabouraud, Ulrike, Schara, Gabriele, Siciliano, Liliana, Vercelli, Thomas, Voit, Grace, Yoon, Rachel, Alvarez, Francesco, Muntoni, Tyler M, Pierson, David, Gómez-Andrés, A, Reghan Foley, Susana, Quijano-Roy, Carsten G, Bönnemann, Gisèle, Bonne

المصدر: Brain Communications

مصطلحات موضوعية: muscular dystrophy, AcademicSubjects/SCI01870, laminopathies, striated muscle, early onset, LMNA, Original Article, AcademicSubjects/MED00310

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::72e871e4b9d150ef8d59b34bcdce8628
https://pubmed.ncbi.nlm.nih.gov/34240052

4

[Autoimmune encephalitis. Anti-NMDA receptor and new immunophenotypes]

المؤلفون: Ricardo Erazo Torricelli

المصدر: Medicina (Buenos Aires), Vol 79, Iss Suppl 3, Pp 54-59 (2019)

مصطلحات موضوعية: lcsh:Immunologic diseases. Allergy, Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Male, anti-neuronal antibodies, lcsh:R, lcsh:Medicine, anti-nmdar encephalitis, Hashimoto Disease, Receptors, N-Methyl-D-Aspartate, autoimmune encephalitis, lcsh:Infectious and parasitic diseases, Encephalitis, Humans, lcsh:RC109-216, Female, immunotherapy, lcsh:RC581-607, Autoantibodies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1eab69b4dd1e0caf7327e0f3c273800a
https://pubmed.ncbi.nlm.nih.gov/31603845

5

[Peripheral nervous system immunological disorder]

المؤلفون: Ricardo, Erazo Torricelli

المصدر: Medicina. 78

مصطلحات موضوعية: Adrenal Cortex Hormones, Myasthenia Gravis, Humans, Immunoglobulins, Prednisone, Cholinesterase Inhibitors, Guillain-Barre Syndrome, Prognosis, Dermatomyositis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::49c957623bd3a0a317497f1d9bae308b
https://pubmed.ncbi.nlm.nih.gov/30199371

6

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

المؤلفون: Nathalie Goemans, Perry B. Shieh, Eugenio Mercuri, M. James, Maria Bernadete Dutra de Resende, Kathryn Selby, Jean K. Mah, Brigitte Chabrol, Juan J. Vílchez, Andrés Nascimento Osorio, Yann Péréon, Linda Lowes, Gihan Tennekoon, Leslie Nelson, Jahannaz Dastgir, Janbernd Kirschner, Thomas Voit, Haluk Topaloglu, Joseph McIntosh, Marcio Souza, Francesco Muntoni, Susan D. Apkon, Richard S. Finkel, Enrico Bertini, R. Spiegel, Kristi J. Jones, Timothy Lotze, Julie A. Parsons, Peter Riebling, Kristy Rose, Giuseppe Vita, H. Kroger, Tuyen Ong, H. Lee Sweeney, Susan T. Iannaccone, Michela Guglieri, Craig Campbell, Kevin M. Flanigan, Clemens Bloetzer, Xiaohui Luo, Peter Heydemann, Michelle Eagle, Anna Kamińska, Stuart W. Peltz, Peter I. Karachunski, Martin Kudr, Giacomi Pietro Comi, Hoda Abdel-Hamid, Lausanne Canton de Vaud, Craig M. McDonald, Basil T. Darras, Yoram Nevo, Ulrike Schara, Alexandra Prufer de Queiroz Campos Araujo, Lindsay N. Alfano, Russell J. Butterfield, J. Ben Renfroe, Thomas Sejersen, Erika Finanger, Gary Elfring, Katherine D. Mathews, Jong-Hee Chae, Isabelle Desguerre, Daehak-ro Jongno-gu, Raul G Escobar, Elena S. Mazzone, Anna Mayhew, Brenda Wong, Richard J. Barohn, Monique M. Ryan, Imelda Hughes, Ricardo Erazo Torricelli, Mar Tulinius

المصدر: Lancet
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Paediatrics Publications

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Patients, Adolescent, Population, Nonsense mutation, Medizin, Subgroup analysis, Walking, Placebo, Global Health, Muscular Dystrophies, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Clinical endpoint, Medicine, Humans, Muscular Dystrophy, education, Child, Muscular Dystrophy, Duchenne, Muscular Dystrophies, Patients, education.field_of_study, Oxadiazoles, Intention-to-treat analysis, business.industry, duchenne, General Medicine, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, chemistry, Codon, Nonsense, Ambulatory, business, 030217 neurology & neurosurgery