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 profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation. (18th May 2017) Authors: Fayssoil, Abdallah; Yaou, Rabah Ben; Ogna, Adam; Leturcq, France; Nardi, Olivier; Clair, Bernard; Wahbi, Karim; Lofaso, Frederic; Laforet, Pascal; Duboc, Denis; Orlikowski, David; Annane, Djillali Journal: ESC heart failure Issue: Volume 4:Number 4(2017) Page Start: 527 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deep phenotyping of an international series of patients with late‐onset dysferlinopathy. (1st April 2021) Authors: Fernández‐Eulate, Gorka; Querin, Giorgia; Moore, Ursula; Behin, Anthony; Masingue, Marion; Bassez, Guillaume; Leonard‐Louis, Sarah; Laforêt, Pascal; Maisonobe, Thierry; Merle, Philippe‐Edouard; Spinazzi, Marco; Solé, Guilhem; Kuntzer, Thierry; Bedat‐Millet, Anne‐Laure; Salort‐Campana, Emmanuelle;... Journal: European journal of neurology Issue: Volume 28:Number 6(2021) Page Start: 2092 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. Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells. Issue 1 (December 2015) Authors: Massouridès, Emmanuelle; Polentes, Jérôme; Mangeot, Philippe-Emmanuel; Mournetas, Virginie; Nectoux, Juliette; Deburgrave, Nathalie; Nusbaum, Patrick; Leturcq, France; Popplewell, Linda; Dickson, George; Wein, Nicolas; Flanigan, Kevin; Peschanski, Marc; Chelly, Jamel; Pinset, Christian Journal: Skeletal muscle Issue: Volume 5:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non‐invasive prenatal diagnosis of achondroplasia. (7th April 2016) Authors: Orhant, Lucie; Anselem, Olivia; Fradin, Mélanie; Becker, Pierre Hadrien; Beugnet, Caroline; Deburgrave, Nathalie; Tafuri, Gilles; Letourneur, Franck; Goffinet, François; Allach El Khattabi, Laïla; Leturcq, France; Bienvenu, Thierry; Tsatsaris, Vassilis; Nectoux, Juliette Journal: Prenatal diagnosis Issue: Volume 36:Number 5(2016) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients. Issue 10 (8th September 2021) Authors: Torelli, Silvia; Scaglioni, Domenic; Sardone, Valentina; Ellis, Matthew J; Domingos, Joana; Jones, Adam; Feng, Lucy; Chambers, Darren; Eastwood, Deborah M; Leturcq, France; Yaou, Rabah Ben; Urtizberea, Andoni; Sabouraud, Pascal; Barnerias, Christine; Stojkovic, Tanya; Ricci, Enzo; Beuvin, Maud; B... Journal: Journal of neuropathology and experimental neurology Issue: Volume 80:Issue 10(2021) Page Start: 955 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients. Issue 6 (10th April 2017) Authors: Papadopoulos, Constantinos; LaforÊt, Pascal; Nectoux, Juliette; Stojkovic, Tanya; Wahbi, Karim; Carlier, Robert‐Yves; Carlier, Pierre G; Leonard‐Louis, Sarah; Leturcq, France; Romero, Norma; Eymard, Bruno; Behin, Anthony Journal: Muscle & nerve Issue: Volume 56:Issue 6(2017) Page Start: 1096 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Limb girdle muscular dystrophy due to mutations in POMT2. Issue 5 (24th November 2017) Authors: Østergaard, Sofie Thurø; Johnson, Katherine; Stojkovic, Tanya; Krag, Thomas; De Ridder, Willem; De Jonghe, Peter; Baets, Jonathan; Claeys, Kristl G; Fernández-Torrón, Roberto; Phillips, Lauren; Topf, Ana; Colomer, Jaume; Nafissi, Shahriar; Jamal-Omidi, Shirin; Bouchet-Seraphin, Celine; Leturcq, F... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 5(2018) Page Start: 506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗