Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think? von Aguilera, Cinthia, Esteve-Garcia, Anna, Casasnovas, Carlos, Vélez-Santamaria, Valentina, Rausell, Laura, Gargallo, Pablo, Garcia-Planells, Javier, Alía, Pedro, Llecha, Núria, Padró-Miquel, Ariadna

Volltext

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy von Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora

Volltext

Functionality, physical activity, fatigue and quality of life in patients with acute COVID-19 and Long COVID infection von Vélez-Santamaría, Rodrigo, Fernández-Solana, Jessica, Méndez-López, Fátima, Domínguez-García, Marta, González-Bernal, Jerónimo J., Magallón-Botaya, Rosa, Oliván-Blázquez, Bárbara, González-Santos, Josefa, Santamaría-Peláez, Mirian

Volltext

Intravenous immunoglobulins may prevent prednisone-exacerbation in myasthenia gravis von Díez-Porras, Laura, Homedes, Christian, Alberti, Maria Antonia, Vélez-Santamaría, Valentina, Casasnovas, Carlos

Volltext

Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre von Nedkova-Hristova, Velina, Vélez-Santamaría, Valentina, Casasnovas, Carlos

Volltext

Eculizumab as a promising treatment in thymoma-associated myasthenia gravis von Vélez-Santamaría, Valentina, Nedkova, Velina, Díez, Laura, Homedes, Christian, Alberti, M. Antonia, Casasnovas, Carlos

Volltext

Expanding the clinical and genetic spectrum of PCYT2-related disorders von Vélez-Santamaría, Valentina, Verdura, Edgard, Macmurdo, Colleen, Planas-Serra, Laura, Schlüter, Agatha, Casas, Josefina, Martínez, Juan José, Casasnovas, Carlos, Si, Yue, Thompson, Stephanie S, Maroofian, Reza, Pujol, Aurora

Volltext

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management von Vélez-Santamaría, Valentina, Nedkova-Hristova, Velina, Morales de la Prida, Moisés, Casasnovas, Carlos

Volltext

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy von Guasto, Alessandra, Dubail, Johanne, Aguilera-Albesa, Sergio, Paganini, Chiara, Vanhulle, Catherine, Haouari, Walid, Gorría-Redondo, Nerea, Aznal-Sainz, Elena, Boddaert, Nathalie, Planas-Serra, Laura, Schlüter, Agatha, Verdura, Edgard, Bruneel, Arnaud, Rossi, Antonio, Huber, Céline, Pujol, Aurora, Cormier-Daire, Valérie

Volltext

Quality of Life in Myasthenia Gravis and Correlation of MG-QOL15 with Other Functional Scales von Diez Porras, Laura, Homedes, Christian, Alberti, Maria Antonia, Velez Santamaria, Valentina, Casasnovas, Carlos

Volltext

Hospital admission and vaccination as predictive factors of long COVID-19 symptoms von Romero-Rodríguez, Esperanza, Pérula-de Torres, Luis Ángel, Castro-Jiménez, Rafael, González-Lama, Jesús, Jiménez-García, Celia, González-Bernal, Jerónimo J., González-Santos, Josefa, Vélez-Santamaría, Rodrigo, Sánchez-González, Esteban, Santamaría-Peláez, Mirian

Volltext

Treatment With Diflunisal in Domino Liver Transplant Recipients With Acquired Amyloid Neuropathy von Nedkova-Hristova, Velina, Baliellas, Carmen, González-Costello, José, Lladó, Laura, González-Vilatarsana, Emma, Vélez-Santamaría, Valentina, Casasnovas, Carlos

Volltext

Designing with water in three periods of transformation in Medellín’s infrastructure and public space von David Vélez Santamaría, Germán Darío Tamayo Osorio

Volltext

Safety, Tolerability, and Outcomes of Tafamidis for the Treatment of Acquired Amyloid Neuropathy in Domino Liver Transplant Recipients von Nedkova-Hristova, Velina, Donadeu, Laura, Baliellas, Carmen, González-Costello, José, Lladó, Laura, González-Vilatarsana, Emma, Vélez-Santamaría, Valentina, de la Prida, Miosés Morales, Bestard, Oriol, Casasnovas, Carlos

Volltext

Efficacy of a Rehabilitation Program Using Mirror Therapy and Cognitive Therapeutic Exercise on Upper Limb Functionality in Patients with Acute Stroke von Fernández-Solana, Jessica, Álvarez-Pardo, Sergio, Moreno-Villanueva, Adrián, Santamaría-Peláez, Mirian, González-Bernal, Jerónimo J, Vélez-Santamaría, Rodrigo, González-Santos, Josefa

Volltext

Intravenous immunoglobulins may prevent prednisone-exacerbation in myasthenia gravis von Díez Porras, Laura, Homedes, Christian, Alberti, Maria Antonia, Vélez Santamaria, Valentina, Casasnovas Pons, Carlos

Volltext

Epigenome-wide association study of COVID-19 severity with respiratory failure von Castro de Moura, Manuel, Davalos, Veronica, Planas-Serra, Laura, Alvarez-Errico, Damiana, Arribas, Carles, Ruiz, Montserrat, Aguilera-Albesa, Sergio, Troya, Jesús, Valencia-Ramos, Juan, Vélez-Santamaria, Valentina, Rodríguez-Palmero, Agustí, Villar-Garcia, Judit, Horcajada, Juan P., Albu, Sergiu, Casasnovas, Carlos, Rull, Anna, Reverte, Laia, Dietl, Beatriz, Dalmau, David, Arranz, Maria J., Llucià-Carol, Laia, Planas, Anna M., Pérez-Tur, Jordi, Fernandez-Cadenas, Israel, Villares, Paula, Tenorio, Jair, Colobran, Roger, Martin-Nalda, Andrea, Soler-Palacin, Pere, Vidal, Francesc, Pujol, Aurora, Esteller, Manel

Volltext

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization von Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, García-Cazorla, Àngels, Ortiz-Martínez, Antonio José, Ignacio-Ortez, Carlos, Cáceres-Marzal, Cristina, Martínez-Salcedo, Eduardo, Mondragón, Elisabet, Barredo, Estíbaliz, Airaldi, Ileana Antón, Martínez, Javier Ruiz, Ramos, Joaquin A. Fernández, Vázquez, Juan Francisco, Díez-Porras, Laura, Vázquez-Cancela, María, O’Callaghan, Mar, Sánchez, Tamara Pablo, Nedkova, Velina, Pérez, Ana Isabel Maraña, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora

Volltext

Clinical and Epidemiological Profiles of Primary Healthcare Professionals with COVID-19 Infection and Long COVID: An Observational Study von Romero-Rodríguez, Esperanza, Vélez-Santamaría, Rodrigo, Pérula-de-Torres, Luis Ángel, González-Lama, Jesús, Castro-Jiménez, Rafael Ángel, Simón-Vicente, Lucía, Jiménez-García, Celia, González-Bernal, Jerónimo J, Santamaría-Peláez, Mirian, Fernández-Solana, Jessica, González-Santos, Josefa

Volltext

Long COVID Symptomatology and Associated Factors in Primary Care Patients: The EPICOVID-AP21 Study von Romero-Rodríguez, Esperanza, Perula-de-Torres, Luis Ángel, González-Lama, Jesús, Castro-Jiménez, Rafael Ángel, Jiménez-García, Celia, Priego-Pérez, Carmen, Vélez-Santamaría, Rodrigo, Simón-Vicente, Lucía, González-Santos, Josefa, González-Bernal, Jerónimo J

Volltext