Results overview: Found 2 records in 0.02 seconds.
Articles, 1 records found
Research literature, 1 records found
Articles 1 records found  
1.
21 p, 4.8 MB A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss / Servián Morilla, Emilia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Takeuchi, Hideyuki (The University of Georgia) ; Lee, Tom V. (Baylor College of Medicine) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Mavillard, Fabiola (Universidad de Sevilla) ; Area Gómez, Estela (Columbia University Medical Center) ; Rivas, Eloy (Universidad de Sevilla) ; Nieto González, José L. (Universidad de Sevilla) ; Rivero, María C. (Universidad de Sevilla) ; Cabrera Serrano, Macarena (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Gómez Sánchez, Leonardo (Universidad de Sevilla) ; Martínez López, José A. (Universidad de Sevilla) ; Estrada, Beatriz (Universidad Pablo Olavide) ; Márquez, Celedonio (Universidad de Sevilla) ; Morgado, Yolanda (Hospital U. Valme) ; Suárez Calvet, Xavier (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ; Bigot, Anne (Sorbonne Universités) ; Gallardo Vigo, Eduard (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Fernández Chacón, Rafael (Universidad de Sevilla) ; Hirano, Michio (Columbia University Medical Center) ; Haltiwanger, Robert S. (The University of Georgia) ; Jafar‐Nejad, Hamed (Baylor College of Medicine) ; Paradas, Carmen (Columbia University Medical Center) ; Universitat Autònoma de Barcelona
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb‐girdle muscular dystrophy, we identified a missense mutation in 1 (protein O ‐glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. [...]
2016 - 10.15252/emmm.201505815
EMBO Molecular Medicine, Vol. 8, Issue 11 (November 2016) , p. 1289-1309  

Research literature 1 records found  
1.
110 p, 7.2 MB Nous aspectes fisiopatogènics en la dermatomiositis / Suárez Calvet, Xavier ; Illa Sendra, Isabel, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
Les miopaties inflamatòries són un grup de malalties neuromusculars molt heterogeni que es caracteritzen clínicament per la presència de debilitat muscular que pot arribar a ser invalidant. Aquest grup de malalties inclou la dermatomiositis (DM), la polimiositis, la miopatia per cossos d'inclusió i recentment s'hi ha inclòs la miopatia necrotitzant autoimmune. [...]
Inflammatory myopathies are an heterogeneous group of neuromuscular diseases that are clinically characterized by the presence of muscle weakness that leads to disability. This group of diseases includes dermatomyositis (DM), polymyositis, inclusion body myositis and recently, necrotizing autoimmune myopathies have also been included. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2015  

Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.