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Journal of Clinical Medicine|April 30, 2021
Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA VariantDavid Araújo-Vilar, Antía Fernández-Pombo, Berta Victoria, et al.
Neuroscience|November 18, 2018
Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain AutopsiesSofía Sánchez-Iglesias, Alberto Fernández-Liste, Cristina Guillín-Amarelle, et al.
Anti-Cancer Drugs|March 4, 2021
Modified Glasgow Prognostic Score predicts survival among advanced non-small cell lung carcinoma patients treated with anti-PD1 agentsCláudia Freitas, Maria Jacob, Nuno Tavares, et al.
Muscle & Nerve|December 11, 2012
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2BAna M Ramos-Leví, Angel Díaz-Pérez, María-Jesús Sobrido, et al.
Aging|June 22, 2026
Life expectancy and causes of death in classical laminopathic progeroid syndromes: systematic review with individual-patient data synthesisCarlos López-Vila, Manuel García-Cordeiro, Luís Estévez-Martínez, et al.
Journal of Clinical Medicine|April 30, 2021
Celia's Encephalopathy (<i>BSCL2</i>-Gene-Related): Current UnderstandingSofía Sánchez-Iglesias, Antía Fernández-Pombo, Silvia Cobelo-Gómez, et al.
Epilepsia|August 23, 2006
Foramen ovale electrodes can identify a focal seizure onset when surface EEG fails in mesial temporal lobe epilepsyTonicarlo R Velasco, Américo C Sakamoto, Veriano Alexandre, et al.
International Journal of Molecular Sciences|December 30, 2025
Metabolic-Associated Steatotic Liver Disease and FGF21 Dysregulation in Seipin-Deficient and <i>BSCL2</i>-Associated Celia's Encephalopathy Murine ModelsSilvia Cobelo-Gómez, Lía García-Formoso, Antía Fernández-Pombo, et al.
Psychiatry Research|April 18, 2008
Regional gray matter abnormalities in panic disorder: a voxel-based morphometry studyRicardo R Uchida, Cristina M Del-Ben, Geraldo F Busatto, et al.
Neurobiology of Disease|August 19, 2015
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative diseaseAlejandro Ruiz-Riquelme, Sofía Sánchez-Iglesias, Alberto Rábano, et al.
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