Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Inmaculada Pitarch‐Castellano"'
Autor:
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
Publikováno v:
Neurology and Therapy, Vol 12, Iss 1, Pp 89-105 (2022)
Abstract Introduction Outcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity. The aim of this study was to assess the psychometric properties of a set of existi
Externí odkaz:
https://doaj.org/article/9bfcddc000ee4147b49cc5667317fe56
Autor:
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
Publikováno v:
Children, Vol 10, Iss 12, p 1880 (2023)
Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, an
Externí odkaz:
https://doaj.org/article/1fa68c40e96a4d09b7aa2772b026b2e6
Autor:
Nancy Carolina Ñungo Garzón, Inmaculada Pitarch Castellano, Teresa Sevilla, Juan Francisco Vázquez‐Costa
Publikováno v:
Muscle & Nerve. 67:407-411
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc4b2a9439074cb3e6b5bd5e78372a26
https://doi.org/10.1002/mus.27804
https://doi.org/10.1002/mus.27804
Autor:
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
Publikováno v:
European journal of neurologyREFERENCES. 29(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af6b292d6b6736a3be5dde6a791eaa5
https://pubmed.ncbi.nlm.nih.gov/35971869
https://pubmed.ncbi.nlm.nih.gov/35971869
Autor:
Juan Francisco Vázquez Costa, Nancy Carolina Ñungo Garzón, Teresa Sevilla, Inmaculada Pitarch Castellano
ObjectiveTo describe the safety and efficacy of risdiplam in non-sitter adult patients with 5q spinal muscular atrophy (SMA).MethodsType 2 SMA adult patients, who were not eligible for nusinersen, were offered risdiplam through the expanded access pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd6a7825b6714d36b35b557da05036ab
https://doi.org/10.1101/2022.06.20.22276486
https://doi.org/10.1101/2022.06.20.22276486
Autor:
Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio, Antonio Moreno Escribano, Solange Kapetanovic Garcia, Raul Dominguez, Jessica M. Exposito, Laura González, Carla Marco, Julita Medina Castillo, Nuria Muelas, Daniel Natera de Benito, Nancy Carolina Ñungo Garzón, Inmaculada Pitarch Castellano, Teresa Sevilla, David Hervás
Publikováno v:
EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients.Patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22a4844acab6ae3605744c22e9608a7
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16878
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16878
Autor:
Juan F. Vázquez‐Costa, Mónica Povedano, Andrés E. Nascimiento‐Osorio, Antonio Moreno Escribano, Solange Kapetanovic Garcia, Raul Dominguez, Jessica M. Exposito, Laura González, Carla Marco, Julita Medina Castillo, Nuria Muelas, Daniel Natera de Benito, Nancy Carolina Ñungo Garzón, Inmaculada Pitarch Castellano, Teresa Sevilla, David Hervás
Publikováno v:
EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
The aim was to assess the safety and efficacy of nusinersen in adult 5q spinal muscular atrophy (SMA) patients.Patients older than 15 years and followed for at least 6 months with one motor scale (Hammersmith Functional Motor Scale Expanded, HFMSE; R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b79299574e2c3c00e6c1d90f7a07e336
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16720
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16720
Autor:
Inmaculada Azorín, Ana Victoria Marco-Hernández, Honorio Barranco-González, Juan Jesus Vilchez Padilla, Alejandro Montoya-Filardi, Inmaculada Pitarch-Castellano, Patricia Smeyers Dura, Miguel Tomás-Vila, Francisco Martínez‐ Castellano, Sandra Monfort-Membrado
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::663ff7f5bb811d5177419b5ff77c89d0
https://doi.org/10.1111/cge.14093/v2/response1
https://doi.org/10.1111/cge.14093/v2/response1
Autor:
Fernando Aparici, Inmaculada Pitarch‐Castellano, Juan F. Vázquez-Costa, Manuel Cifrian-Perez, Diana Veiga‐Canuto
Publikováno v:
EUROPEAN JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Background and purpose The purpose was to report the results of ultrasound-guided lumbar puncture for the administration of nusinersen in spinal muscular atrophy (SMA) patients with complex spines. Methods Eighteen SMA patients (five children, five a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec0aea408478bb489b0b066ac2e5fa5a
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13055
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13055
Autor:
Inmaculada Pitarch Castellano, Eduardo López Briz, Eugenia Ibáñez Albert, Cristina Aguado Codina, Teresa Sevilla, José L. Poveda Andrés
Publikováno v:
Children, Vol 11, Iss 5, p 590 (2024)
Onasemnogene abeparvovec (OA) is the approved intravenous gene therapy for the treatment of spinal muscular atrophy (SMA). A functional copy of the human SMN1 gene was inserted into the target motor neuron cells via a viral vector, AAV9. In clinical
Externí odkaz:
https://doaj.org/article/8f349d5035a04bc69de3c05ac43b2ab3