Lipodistrofia Parcial Familiar tipo 2: a propósito de un caso

by David Araújo Vilar, Antía Fernández Pombo
Published 2021-03-01

Máculas hiperpigmentadas: una reacción adversa del tratamiento con metreleptina

by David Araújo-Vilar, Sofía Quinteiro, Antía Fernández-Pompo, Sofía Sánchez-Iglesias
Published 2020-10-01

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

by David Araújo-Vilar, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Gemma Rodríguez-Carnero, Felipe F. Casanueva, Antía Fernández-Pombo
Published 2021-03-01

Inflammatory myopathy in the context of an unusual overlapping laminopathy

by Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F. Casanueva, David Araújo-Vilar
Published 2018-05-01

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

by David Araújo-Vilar, Antía Fernández-Pombo, Berta Victoria-Martínez, Adrián Mosquera-Orgueira, Silvia Cobelo-Gómez, Ana Castro-Pais, Álvaro Hermida-Ameijeiras, Lourdes Loidi, Sofía Sánchez-Iglesias
Published 2021-04-01

Celia’s Encephalopathy (<i>BSCL2</i>-Gene-Related): Current Understanding

by Sofía Sánchez-Iglesias, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Helena Alarcón-Martínez, Rosario Domingo-Jiménez, Alejandro Iván Ruíz Riquelme, Jesús R. Requena, David Araújo-Vilar
Published 2021-04-01

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

by Alejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, Encarna Guillén-Navarro, Rosario Domingo-Jiménez, Adriana Ramos, Isaac Rosa, Ana Senra, Peter Nilsson, Ángel García, David Araújo-Vilar, Jesús R. Requena
Published 2015-11-01

Immunological features of patients affected by Barraquer-Simons syndrome

by Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa
Published 2020-01-01

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

by Fernando Corvillo, Giovanni Ceccarini, Pilar Nozal, Silvia Magno, Caterina Pelosini, Sofía Garrido, Alberto López-Lera, Manuela Moraru, Carlos Vilches, Silvia Fornaciari, Sabrina Gabbriellini, Ferruccio Santini, David Araújo-Vilar, Margarita López-Trascasa
Published 2020-03-01

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

by Sofía Sánchez-Iglesias, Alexander Unruh-Pinheiro, Cristina Guillín-Amarelle, Blanca González-Méndez, Alejandro Ruiz-Riquelme, Blanca Leticia Rodríguez-Cañete, Silvia Rodríguez-García, Encarnación Guillén-Navarro, Rosario Domingo-Jiménez, David Araújo-Vilar
Published 2016-01-01

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

by Antía Fernández-Pombo, José M. Cameselle-Teijeiro, Jose A. Puñal-Rodríguez, Lourdes Loidi, Roberto Peinó-García, Paloma Cabanas-Rodríguez, Miguel Garrido-Pumar, Sandra Baleato-González, Enrique Flores-Ríos, David Araújo-Vilar
Published 2019-01-01

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy

by Fernando Corvillo, Fernando Corvillo, Verónica Aparicio, Alberto López-Lera, Alberto López-Lera, Sofía Garrido, Sofía Garrido, David Araújo-Vilar, María P. de Miguel, Margarita López-Trascasa, Margarita López-Trascasa, Margarita López-Trascasa
Published 2018-09-01

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

by Fernando Corvillo, Laura González-Sánchez, Alberto López-Lera, Emilia Arjona, Giovanni Ceccarini, Ferruccio Santini, David Araújo-Vilar, Rebecca J Brown, Joan Villarroya, Francesc Villarroya, Santiago Rodríguez de Córdoba, Teresa Caballero, Pilar Nozal, Margarita López-Trascasa
Published 2021-06-01

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

by Camilla Pellegrini, Marta Columbaro, Elisa Schena, Sabino Prencipe, Davide Andrenacci, Patricia Iozzo, Maria Angela Guzzardi, Cristina Capanni, Elisabetta Mattioli, Manuela Loi, David Araujo-Vilar, Stefano Squarzoni, Saverio Cinti, Paolo Morselli, Assuero Giorgetti, Laura Zanotti, Alessandra Gambineri, Giovanna Lattanzi
Published 2019-08-01

LipoDDx: a mobile application for identification of rare lipodystrophy syndromes

by David Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, Miguel Ángel Martínez-Olmos, Ana Cantón, Rocío Villar-Taibo, Álvaro Hermida-Ameijeiras, Alicia Santamaría-Nieto, Carmen Díaz-Ortega, Carmen Martínez-Rey, Antonio Antela, Elena Losada, Andrés E. Muy-Pérez, Blanca González-Méndez, Sofía Sánchez-Iglesias
Published 2020-04-01

European lipodystrophy registry: background and structure

by Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C. M. Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B. Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch
Published 2020-01-01