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Treatment of spinal muscular atrophy in European countries: A call to action
Vázquez‐Costa, Juan F., Martínez‐Moreno, Mercedes, Madruga‐Garrido, Marcos, Munell, Francina, Nascimento, Andrés, Pitarch‐Castellano, Inmaculada, Pascual‐Pascual, Samuel Ignacio, Povedano, Mónica, Cattinari, Maria Grazia
Published in European journal of neurology (01.11.2022)
Published in European journal of neurology (01.11.2022)
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Journal Article
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene
Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco
Published in Clinical genetics (01.02.2022)
Published in Clinical genetics (01.02.2022)
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Journal Article
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report
Pitarch Castellano, Inmaculada, López Briz, Eduardo, Ibáñez Albert, Eugenia, Aguado Codina, Cristina, Sevilla, Teresa, Poveda Andrés, José L.
Published in Children (Basel) (01.05.2024)
Published in Children (Basel) (01.05.2024)
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Journal Article
Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy
Vázquez‐Costa, Juan F., Povedano, Mónica, Nascimiento‐Osorio, Andrés E., Moreno Escribano, Antonio, Kapetanovic Garcia, Solange, Dominguez, Raul, Exposito, Jessica M., González, Laura, Marco, Carla, Medina Castillo, Julita, Muelas, Nuria, Natera de Benito, Daniel, Ñungo Garzón, Nancy Carolina, Pitarch Castellano, Inmaculada, Sevilla, Teresa, Hervás, David
Published in European journal of neurology (01.12.2022)
Published in European journal of neurology (01.12.2022)
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Journal Article
Nusinersen in adult patients with 5q spinal muscular atrophy: A multicenter observational cohorts' study
Vázquez‐Costa, Juan F., Povedano, Mónica, Nascimiento‐Osorio, Andrés E., Moreno Escribano, Antonio, Kapetanovic Garcia, Solange, Dominguez, Raul, Exposito, Jessica M., González, Laura, Marco, Carla, Medina Castillo, Julita, Muelas, Nuria, Natera de Benito, Daniel, Ñungo Garzón, Nancy Carolina, Pitarch Castellano, Inmaculada, Sevilla, Teresa, Hervás, David
Published in European journal of neurology (01.11.2022)
Published in European journal of neurology (01.11.2022)
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Journal Article
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community
Berzal-Serrano, Alba, García-Bohórquez, Belén, Aller, Elena, Jaijo, Teresa, Pitarch-Castellano, Inmaculada, Rausell, Dolores, García-García, Gema, Millán, José M.
Published in International journal of neonatal screening (14.01.2025)
Published in International journal of neonatal screening (14.01.2025)
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Journal Article
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability
Armengol, Victor D., Darras, Basil T., Abulaban, Ahmad A., Alshehri, Ali, Barisic, Nina, Ben-Omran, Tawfeg, Bernert, Guenther, Castiglioni, Claudia, Chien, Yin-Hsiu, Farrar, Michelle A., Kandawasvika, Gwendoline, Khadilkar, Satish, Mah, Jean, Marini-Bettolo, Chiara, Osredkar, Damjan, Pfeffer, Gerald, Piazzon, Flavia B., Pitarch Castellano, Inmaculada, Quijano-Roy, Susana, Saito, Kayoko, Shin, Jin-Hong, Vázquez-Costa, Juan F., Walter, Maggie C., Wanigasinghe, Jithangi, Xiong, Hui, Griggs, Robert C., Roy, Bhaskar
Published in Neurology. Clinical practice (01.02.2024)
Published in Neurology. Clinical practice (01.02.2024)
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Journal Article
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study
Vázquez-Costa, Juan F., Branas-Pampillón, María, Medina-Cantillo, Julita, Povedano, Mónica, Pitarch-Castellano, Inmaculada, López-Lobato, Mercedes, Fernández-Ramos, Joaquín A., Lafuente-Hidalgo, Miguel, Rojas-García, Ricard, Caballero-Caballero, José M., Málaga, Ignacio, Eirís-Puñal, Jesús, De Lemus, Mencía, Cattinari, María G., Cabello-Moruno, Rosana, Díaz-Abós, Paola, Sánchez-Menéndez, Victoria, Rebollo, Pablo, Maurino, Jorge, Madruga-Garrido, Marcos
Published in Neurology and therapy (01.02.2023)
Published in Neurology and therapy (01.02.2023)
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Journal Article
Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry
Pitarch-Castellano, Inmaculada, Hervás, David, Cattinari, Maria, Ibáñez Albert, Eugenia, López Lobato, Mercedes, Ñungo Garzón, Nancy, Rojas, Juan, Puig-Ram, Cristina, Madruga-Garrido, Marcos
Published in Children (Basel) (30.11.2023)
Published in Children (Basel) (30.11.2023)
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Journal Article
Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening
Pitarch-Castellano, Inmaculada, Ñungo-Garzón, Nancy Carolina, Aragon-Gawińska, Karolina, Ibáñez-Albert, Eugenia, Vázquez-Costa, Juan F., Sevilla, Teresa
Published in Children (Basel) (02.09.2025)
Published in Children (Basel) (02.09.2025)
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Journal Article
Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial
Crawford, Thomas O, Servais, Laurent, Mercuri, Eugenio, Kölbel, Heike, Kuntz, Nancy, Finkel, Richard S, Krueger, Jena, Batley, Kaitlin, Young, Sally Dunaway, Marantz, Jing L, Song, Guochen, Yao, Bert, Zhao, Guolin, Rossello, Jose, Tirucherai, Giridhar S, Mazzone, Elena Stacy, Butterfield, Russell J, de la Banda, Marta Gomez Garcia, Seferian, Andreea M, Sansone, Valeria A, De Waele, Liesbeth, van der Pol, W Ludo, Cances, Claude, Pechmann, Astrid, Darras, Basil T, Nazario, Adelie Navas, Connolly, Anne M., Tesi-Rocha, Carolina, Rady, Chamindra Laverty, Zaidman, Craig, Proud, Crystal, Phan, Han, Statland, Jeffrey M., Kwon, Jennifer, Nance, Jessica, Parsons, Julie, Mathews, Katherine, Ramos-Platt, Leigh Marie, Cartwright, Michael, Richardson, Randal, Fryer, Robert, Yum, Sabrina, Bernes, Saunder, Perlman, Seth Javier, Bruno, Claudio, Masson, Riccardo, Messina, Sonia, Blaschek, Astrid, Holzwarth, Dorothea, Steinborn, Barbara, Kotulska-Jozwiak, Katarzyna, Mazurkiewicz-Beldzinska, Maria, Daron, Aurore, Deconinck, Nicolas, Davion, Jean-Baptiste B., Childs, Anne-Marie, Baranello, Giovanni, Nascimento Osorio, Andres, Castellano, Inmaculada Pitarch
Published in Lancet neurology (01.09.2025)
Published in Lancet neurology (01.09.2025)
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Journal Article
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies
Carrera-García, Laura, Expósito-Escudero, Jessica, Ñungo Garzón, Nancy Carolina, Pareja, Ana, Fernández-García, Miguel A., Ortez, Carlos, Medina, Julita, Martínez-Salcedo, Eduardo, Urbano, Mario, Grimalt, Maria Antonia, Munell, Francina, García-Campos, Óscar, Roca, Sandra, Moya, Obdulia, Estévez-Arias, Berta, Balsells, Sol, Frongia, Anna Lia, Borràs, Ariadna, Puig-Ram, Cristina, García Romero, Mar, Calvo, Rocío, López-Lobato, Mercedes, Pitarch-Castellano, Inmaculada, Natera-de Benito, Daniel, Nascimento, Andres
Published in Journal of neurology (01.05.2025)
Published in Journal of neurology (01.05.2025)
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Journal Article
Validación de la versión española de la Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS)
Pitarch-Castellano, Inmaculada, Argente-Escrig, Herminia, Frasquet, Marina, Damià-Vidal, María, Canet-Barrera, Alberto, Sevilla, Teresa, Burns, Johua
Published in Revista de neurologiá (01.02.2022)
Published in Revista de neurologiá (01.02.2022)
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Journal Article
Real-world data on spinal muscular atrophy in Spain: Insights from over 500 individuals in the CuidAME project
Puig-Ram, Cristina, Segovia, Sonia, Garcia-Uzquiano, Rocio, Ñungo Garzón, Nancy Carolina, Aragon-Gawinska, Karolina, García Romero, Mar, Expósito-Escudero, Jesica María, Carrera-García, Laura, López-Lobato, Mercedes, Paradas, Carmen, González Mera, Laura, Álvarez Molinero, Mireia, Gómez Andrés, David, Toro, Esther, Fernández Ramos, Joaquín Alejandro, Grimalt, Maria Antonia, Toledo Bravo de Laguna, Laura, González Barrios, Desire, Tizzano, Eduardo F, Cattinari, Maria Grazia, Medina, Julita, Calvo Medina, Rocío, Munell, Francina, Sotoca, Javier, Martínez-Salcedo, Eduardo, Moreno Escribano, Antonio, Povedano Panadés, Mónica, Fernández-García, Miguel A., Pitarch-Castellano, Inmaculada, Vázquez-Costa, Juan F., Natera-de Benito, Daniel, Nascimento, Andres
Published in Journal of neuromuscular diseases (28.07.2025)
Published in Journal of neuromuscular diseases (28.07.2025)
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Journal Article