المؤلفون: Inmaculada Pitarch Castellano, Eduardo López Briz, Eugenia Ibáñez Albert, Cristina Aguado Codina, Teresa Sevilla, José L. Poveda Andrés

المصدر: Children, Vol 11, Iss 5, p 590 (2024)

مصطلحات موضوعية: onasemnogene abeparvovec, peripherally inserted central catheter, adeno-associated gene therapy, spinal muscular atrophy, adverse events, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/11/5/590Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/8f349d5035a04bc69de3c05ac43b2ab3Test

المؤلفون: Inmaculada Pitarch-Castellano, David Hervás, Maria Grazia Cattinari, Eugenia Ibáñez Albert, Mercedes López Lobato, Nancy Carolina Ñungo Garzón, Juan Rojas, Cristina Puig-Ram, Marcos Madruga-Garrido

المصدر: Children, Vol 10, Iss 12, p 1880 (2023)

مصطلحات موضوعية: pain, spinal muscular atrophy, neuromuscular disease, children, adolescent natural history, patient registry, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/10/12/1880Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/1fa68c40e96a4d09b7aa2772b026b2e6Test

المؤلفون: Juan F. Vázquez-Costa, María Branas-Pampillón, Julita Medina-Cantillo, Mónica Povedano, Inmaculada Pitarch-Castellano, Mercedes López-Lobato, Joaquín A. Fernández-Ramos, Miguel Lafuente-Hidalgo, Ricard Rojas-García, José M. Caballero-Caballero, Ignacio Málaga, Jesús Eirís-Puñal, Mencía De Lemus, María G. Cattinari, Rosana Cabello-Moruno, Paola Díaz-Abós, Victoria Sánchez-Menéndez, Pablo Rebollo, Jorge Maurino, Marcos Madruga-Garrido

المصدر: Neurology and Therapy, Vol 12, Iss 1, Pp 89-105 (2022)

مصطلحات موضوعية: Spinal muscular atrophy, Patients and caregivers, Outcome measures, Quality of life, Symptom assessment, Disease burden, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2193-8253Test; https://doaj.org/toc/2193-6536Test

الوصول الحر: https://doaj.org/article/9bfcddc000ee4147b49cc5667317fe56Test

المؤلفون: Herminia Argente‐Escrig, Marina Frasquet, Juan Francisco Vázquez‐Costa, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)

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

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/e186954ae6ca469abefce9e51e1e24ebTest

المؤلفون: Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola

المصدر: PLoS ONE, Vol 13, Iss 12, p e0207296 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/4521699476574d809db35ed2954977bdTest

المؤلفون: Armengol, Victor, Darras, Basil, Abulaban, Ahmad, Alshehri, Ali Mohammed, Barisic, Nina, Ben-Omran, Tawfeg, Bernert, Gunther, Castiglioni, Claudia, Chien, Yin-Hsiu, Farrar, Michelle, Kandawasvika, Gwendoline Quetoline, Khadilkar, Satish, Mah, Jean, Marini-Bettolo, Chiara, Osredkar, Damjan, Pfeffer, Gerald, Piazzon, Flavia, Castellano, Inmaculada Pitarch, Quijano-Roy, Susana, Saito, Kayoko, Shin, Jin-Hong, Vázquez-Costa, Juan, Walter, Maggie, Wanigasinghe, Jithangi, Xiong, Hui, Griggs, Robert, Roy, Bhaskar

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.0000000000206000Test

المؤلفون: Armengol, Victor D., Darras, Basil T., Abulaban, Ahmad A., Alshehri, Ali, Barisic, Nina, Ben-Omran, Tawfeg, Bernert, Guenther, Castiglioni, Claudia, Yin-Hsiu Chien, Farrar, Michelle A., Kandawasvika, Gwendoline, Khadilkar, Satish, Mah, Jean, Marini-Bettolo, Chiara, Osredkar, Damjan, Pfeffer, Gerald, Piazzon, Flavia B., Castellano, Inmaculada Pitarch, Quijano-Roy, Susana, Kayoko Saito

المصدر: Neurology: Clinical Practice; Feb2024, Vol. 14 Issue 1, p1-12, 12p

المؤلفون: Nancy Carolina Ñungo Garzón, Inmaculada Pitarch Castellano, Teresa Sevilla, Juan Francisco Vázquez‐Costa

المصدر: Muscle & Nerve. 67:407-411

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fc4b2a9439074cb3e6b5bd5e78372a26Test
https://doi.org/10.1002/mus.27804Test

المؤلفون: Vincenzo Lupo, Juan F. Vázquez-Costa, Carmen Espinós, Miguel Tomás-Vila, Teresa Sevilla, Inmaculada Pitarch, Herminia Argente-Escrig, Elvira Millet-Sancho, Marina Frasquet

المصدر: Annals of Clinical and Translational Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, ARYLSULFATASE, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Disease, CHARCOT-MARIE-TOOTH, GUIDELINES, PHENOTYPE, VALIDATION, HEREDITARY NEUROPATHIES, Young Adult, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, RC346-429, Child, Prospective cohort study, Referral and Consultation, Gene, Research Articles, Genetic testing, DISEASE FREQUENCY, medicine.diagnostic_test, MUTATIONS, Mediterranean Region, business.industry, General Neuroscience, Disease progression, Peripheral Nervous System Diseases, Inherited Peripheral Neuropathy, NATURAL-HISTORY, Clinical trial, Spain, Child, Preschool, Referral center, Female, Neurology. Diseases of the nervous system, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, business, RC321-571, GENETIC SUBTYPES, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a679369bfc41ef9a7623dfdb02b9a1Test
https://doi.org/10.1002/acn3.51432Test

المؤلفون: Juan F. Vázquez‐Costa, Mercedes Martínez‐Moreno, Marcos Madruga‐Garrido, Francina Munell, Andrés Nascimento, Inmaculada Pitarch‐Castellano, Samuel Ignacio Pascual‐Pascual, Mónica Povedano, Maria Grazia Cattinari

المصدر: European journal of neurologyREFERENCES. 29(11)

مصطلحات موضوعية: Europe, Muscular Atrophy, Spinal, Neurology, Humans, Neurology (clinical), Spinal Muscular Atrophies of Childhood

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af6b292d6b6736a3be5dde6a791eaa5Test
https://pubmed.ncbi.nlm.nih.gov/35971869Test