1. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy. (15th December 2015) Authors: De Cid, Rafael; Ben Yaou, Rabah; Roudaut, Carinne; Charton, Karine; Baulande, Sylvain; Leturcq, France; Romero, Norma Beatriz; Malfatti, Edoardo; Beuvin, Maud; Vihola, Anna; Criqui, Audrey; Nelson, Isabelle; Nectoux, Juliette; Ben Aim, Laurène; Caloustian, Christophe; Olaso, Robert; Udd, Bjarne; ... Journal: Neurology Issue: Volume 85:Number 24(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data. (22nd March 2021) Authors: Porcher, Raphaël; Desguerre, Isabelle; Amthor, Helge; Chabrol, Brigitte; Audic, Frédérique; Rivier, François; Isapof, Arnaud; Tiffreau, Vincent; Campana-Salort, Emmanuelle; Leturcq, France; Tuffery-Giraud, Sylvie; Ben Yaou, Rabah; Annane, Djillali; Amédro, Pascal; Barnerias, Christine; Bécane, He... Journal: European heart journal Issue: Volume 42:Number 20(2021) Page Start: 1976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical features and therapeutic strategies for managing the striated muscle laminopathies. (2nd June 2016) Authors: Macquart, Coline; Ben Yaou, Rabah; Muchir, Antoine; Wahbi, Karim; Bonne, Gisèle Journal: Expert opinion on orphan drugs Issue: Volume 4:Number 6(2016:Jun.) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. (December 2017) Authors: Ben Yaou, Rabah; Hubert, Aurélie; Nelson, Isabelle; Dahlqvist, Julia R.; Gaist, David; Streichenberger, Nathalie; Beuvin, Maud; Krahn, Martin; Petiot, Philippe; Parisot, Frédéric; Michel, Fabrice; Malfatti, Edoardo; Romero, Norma; Carlier, Robert Yves; Eymard, Bruno; Labrune, Philippe; Duno, Mort... Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy. Issue 1 (25th October 2021) Authors: Fayssoil, Abdallah; Nguyen, Lee S.; Stojkovic, Tanya; Prigent, Helene; Carlier, Robert; Amthor, Helge; Bergounioux, Jean; Zini, Justine; Damez‐Fontaine, Sebastien; Wahbi, Karim; Laforet, Pascal; Nicolas, Guillaume; Behin, Anthony; Bassez, Guillaume; Leturcq, France; Ben Yaou, Rabah; Mansencal, Ni... Journal: Muscle & nerve Issue: Volume 65:Issue 1(2022) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing. Issue 5 (7th April 2017) Authors: Cerino, Mathieu; Gorokhova, Svetlana; Laforet, Pascal; Ben Yaou, Rabah; Salort‐Campana, Emmanuelle; Pouget, Jean; Attarian, Shahram; Eymard, Bruno; Deleuze, Jean‐François; Boland, Anne; Behin, Anthony; Stojkovic, Tanya; Bonne, Gisele; Levy, Nicolas; Bartoli, Marc; Krahn, Martin Journal: Muscle & nerve Issue: Volume 56:Issue 5(2017) Page Start: 993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Issue 3 (11th April 2021) Authors: Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, ... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia. Issue 11 (26th August 2013) Authors: Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery‐Giraud, Sylvie; ... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia. Issue 11 (26th August 2013) Authors: Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery‐Giraud, Sylvie; ... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗