1. Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. Issue 2 (20th January 2013) Authors: Baujat, Geneviève; Huber, Céline; El Hokayem, Joyce; Caumes, Roseline; Do Ngoc Thanh, Claire; David, Albert; Delezoide, Anne-Lise; Dieux-Coeslier, Anne; Estournet, Brigitte; Francannet, Christine; Kayirangwa, Honorine; Lacaille, Florence; Le Bourgeois, Muriel; Martinovic, Jelena; Salomon, Rémi; S... Journal: Journal of medical genetics Issue: Volume 50:Issue 2(2013) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy. Issue 2 (22nd February 2016) Authors: Gómez‐Andrés, David; Dabaj, Ivana; Mompoint, Dominique; Hankiewicz, Karolina; Azzi, Viviane; Ioos, Christine; Romero, Norma B.; Ben Yaou, Rabah; Bergounioux, Jean; Bonne, Giséle; Richard, Pascale; Estournet, Brigitte; Yves‐Carlier, Robert; Quijano‐Roy, Susana Journal: Muscle & nerve Issue: Volume 54:Issue 2(2016) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series. (15th September 2020) Authors: Villar-Quiles, Rocio N.; von der Hagen, Maja; Métay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Em... Journal: Neurology Issue: Volume 95:Number 11(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern. Issue 5 (14th September 2015) Authors: Hankiewicz, Karolina; Carlier, Robert Y.; Lazaro, Leila; Linzoain, Javier; Barnerias, Christine; Gómez‐Andrés, David; Avila‐Smirnow, Daniela; Ferreiro, Ana; Estournet, Brigitte; Guicheney, Pascale; Germain, Dominique P.; Richard, Pascale; Bulacio, Sebastian; Mompoint, Dominique; Quijano‐Roy, Susana Journal: Muscle & nerve Issue: Volume 52:Issue 5(2015:Nov.) Page Start: 728 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗