ECLip-the European consortium on lipodystrophies: an update

por Araújo-Vilar, David
Publicado 2015

Laminopathies

por Lattanzi, Giovanna, Maggi, Lorenzo, Araujo-Vilar, David
Publicado 2018

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

por Chiquette, Elaine, Oral, Elif A, Garg, Abhimanyu, Araújo-Vilar, David, Dhankhar, Praveen
Publicado 2017

Lipodystrophic laminopathies: Diagnostic clues

por Guillín-Amarelle, Cristina, Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Araújo-Vilar, David
Publicado 2018

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy

por Corvillo, Fernando, Aparicio, Verónica, López-Lera, Alberto, Garrido, Sofía, Araújo-Vilar, David, de Miguel, María P., López-Trascasa, Margarita
Publicado 2018

The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges

por Haymond, Morey W, Araújo-Vilar, David, Balser, John, Lewis, James H, Louzado, Ruth, Musso, Carla, von Schnurbein, Julia, Wabitsch, Martin
Publicado 2023

Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

por Fernandez-Pombo, Antia, Diaz-Lopez, Everardo Josue, Castro, Ana I., Sanchez-Iglesias, Sofia, Cobelo-Gomez, Silvia, Prado-Moraña, Teresa, Araujo-Vilar, David
Publicado 2023

Inflammatory myopathy in the context of an unusual overlapping laminopathy

por Guillín-Amarelle, Cristina, Sánchez-Iglesias, Sofía, Mera, Antonio, Pintos, Elena, Castro-Pais, Ana, Rodríguez-Cañete, Leticia, Pardo, Julio, Casanueva, Felipe F., Araújo-Vilar, David
Publicado 2018

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

por Araújo-Vilar, David, Sánchez-Iglesias, Sofía, Castro, Ana I., Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Rodríguez-Carnero, Gemma, Casanueva, Felipe F., Fernández-Pombo, Antía
Publicado 2021

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

por Araújo-Vilar, David, Fernández-Pombo, Antía, Victoria, Berta, Mosquera-Orgueira, Adrián, Cobelo-Gómez, Silvia, Castro-Pais, Ana, Hermida-Ameijeiras, Álvaro, Loidi, Lourdes, Sánchez-Iglesias, Sofía
Publicado 2021

Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding

por Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Alarcón-Martínez, Helena, Domingo-Jiménez, Rosario, Ruíz Riquelme, Alejandro Iván, Requena, Jesús R., Araújo-Vilar, David
Publicado 2021

Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis

por Sánchez-Iglesias, Sofía, Unruh-Pinheiro, Alexander, Guillín-Amarelle, Cristina, González-Méndez, Blanca, Ruiz-Riquelme, Alejandro, Rodríguez-Cañete, Blanca Leticia, Rodríguez-García, Silvia, Guillén-Navarro, Encarnación, Domingo-Jiménez, Rosario, Araújo-Vilar, David
Publicado 2016

Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

por Fernández-Pombo, Antía, Cameselle-Teijeiro, José M., Puñal-Rodríguez, Jose A., Loidi, Lourdes, Peinó-García, Roberto, Cabanas-Rodríguez, Paloma, Garrido-Pumar, Miguel, Baleato-González, Sandra, Flores-Ríos, Enrique, Araújo-Vilar, David
Publicado 2019

Immunological features of patients affected by Barraquer-Simons syndrome

por Corvillo, Fernando, Ceccarini, Giovanni, Nozal, Pilar, Magno, Silvia, Pelosini, Caterina, Garrido, Sofía, López-Lera, Alberto, Moraru, Manuela, Vilches, Carlos, Fornaciari, Silvia, Gabbriellini, Sabrina, Santini, Ferruccio, Araújo-Vilar, David, López-Trascasa, Margarita
Publicado 2020

Correction to: Immunological features of patients affected by Barraquer-Simons syndrome

por Corvillo, Fernando, Ceccarini, Giovanni, Nozal, Pilar, Magno, Silvia, Pelosini, Caterina, Garrido, Sofía, López-Lera, Alberto, Moraru, Manuela, Vilches, Carlos, Fornaciari, Silvia, Gabbriellini, Sabrina, Santini, Ferruccio, Araújo-Vilar, David, López-Trascasa, Margarita
Publicado 2020

Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain

por Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Castro-Pais, Ana I., Ginzo-Villamayor, Maria José, Cobelo-Gómez, Silvia, Prado-Moraña, Teresa, Díaz-López, Everardo Josué, Casanueva, Felipe F., Loidi, Lourdes, Araújo-Vilar, David
Publicado 2023

Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)

por Corvillo, Fernando, González-Sánchez, Laura, López-Lera, Alberto, Arjona, Emilia, Ceccarini, Giovanni, Santini, Ferruccio, Araújo-Vilar, David, Brown, Rebecca J, Villarroya, Joan, Villarroya, Francesc, Rodríguez de Córdoba, Santiago, Caballero, Teresa, Nozal, Pilar, López-Trascasa, Margarita
Publicado 2021

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

por Araujo-Vilar, David, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina, Castro, Ana, Lage, Mary, Pazos, Marcos, Rial, José Manuel, Blasco, Javier, Guillén-Navarro, Encarna, Domingo-Jiménez, Rosario, del Campo, María Ruiz, González-Méndez, Blanca, Casanueva, Felipe F.
Publicado 2014

Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning

por Pellegrini, Camilla, Columbaro, Marta, Schena, Elisa, Prencipe, Sabino, Andrenacci, Davide, Iozzo, Patricia, Angela Guzzardi, Maria, Capanni, Cristina, Mattioli, Elisabetta, Loi, Manuela, Araujo-Vilar, David, Squarzoni, Stefano, Cinti, Saverio, Morselli, Paolo, Giorgetti, Assuero, Zanotti, Laura, Gambineri, Alessandra, Lattanzi, Giovanna
Publicado 2019

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

por Brown, Rebecca J., Araujo-Vilar, David, Cheung, Pik To, Dunger, David, Garg, Abhimanyu, Jack, Michelle, Mungai, Lucy, Oral, Elif A., Patni, Nivedita, Rother, Kristina I., von Schnurbein, Julia, Sorkina, Ekaterina, Stanley, Takara, Vigouroux, Corinne, Wabitsch, Martin, Williams, Rachel, Yorifuji, Tohru
Publicado 2016