1. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. (19th February 2019) Authors: Lagrue, Emmanuelle; Dogan, Céline; De Antonio, Marie; Audic, Frédérique; Bach, Nathalie; Barnerias, Christine; Bellance, Rémi; Cances, Claude; Chabrol, Brigitte; Cuisset, Jean-Marie; Desguerre, Isabelle; Durigneux, Julien; Espil, Caroline; Fradin, Mélanie; Héron, Delphine; Isapof, Arnaud; Jacquin... Journal: Neurology Issue: Volume 92:Number 8(2019) 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. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Issue 1 (December 2018) Authors: Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance; Nowak, Catherine; Douglas, Jessica; Swoboda, Kathryn; Steeves, Marcie; Sahai, Inderneel; Stumpel, Connie; Stegmann, Alexander; Wheeler, Patricia; Willing, Marcia; Fiala, Elise;... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital immobility and stiffness related to biallelic ATAD1 variants. (December 2020) Authors: Bunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michèle; Rodriguez, Diana; Burglen, Lydie; Léger, Pierre-Louis; Kieffer, François; Martin, Isabelle; Héron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Ale... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021) Authors: Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evidence-Based, Implementable Motor Rehabilitation Guidelines for Individuals With Cerebral Palsy. (16th August 2022) Authors: Demont, Anthony; Gedda, Michel; Lager, Céline; de Lattre, Capucine; Gary, Yann; Keroulle, Elisabeth; Feuillerat, Brigitte; Caudan, Hervé; Sancelme, Zoé; Isapof, Arnaud; Viehweger, Elke; Chatelin, Matthieu; Hochard, Marianne; Boivin, Julia; Vurpillat, Pascale; Genès, Nathalie; de Boissezon, Xavier... Journal: Neurology Issue: Volume 99:Number 7(2022) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Issue 8 (17th March 2016) Authors: Mignot, Cyril; von Stülpnagel, Celina; Nava, Caroline; Ville, Dorothée; Sanlaville, Damien; Lesca, Gaetan; Rastetter, Agnès; Gachet, Benoit; Marie, Yannick; Korenke, G Christoph; Borggraefe, Ingo; Hoffmann-Zacharska, Dorota; Szczepanik, Elżbieta; Rudzka-Dybała, Mariola; Yiş, Uluç; Çağlayan, Hande... Other Names: author non-byline.; Craiu Dana author non-byline.; De Jonghe Peter author non-byline.; Helbig Ingo author non-byline.; Guerrini Renzo author non-byline.; Lehesjoki Anna-Elina author non-byline.; Marini Carla author non-byline.; Muhle Hiltrud author non-byline.; Møller Rikke S author non-byline.;... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. GGPS1‐associated muscular dystrophy with and without hearing loss. Issue 9 (23rd July 2022) Authors: Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S.; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier‐Barrot, Sandrine; Isapof... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 9(2022) Page Start: 1465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome. Issue 1 (12th November 2017) Authors: Schwartz, Mathias; Sternberg, Damien; Whalen, Sandra; Afenjar, Alexandra; Isapof, Arnaud; Chabrol, Brigitte; Portnoï, Marie‐France; Heide, Solveig; Keren, Boris; Chantot‐Bastaraud, Sandra; Siffroi, Jean‐Pierre Journal: American journal of medical genetics Issue: Volume 176:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study. (12th February 2021) Authors: Le Voyer, Tom; Gitiaux, Cyril; Authier, François-Jérôme; Bodemer, Christine; Melki, Isabelle; Quartier, Pierre; Aeschlimann, Florence; Isapof, Arnaud; Herbeuval, Jean Philippe; Bondet, Vincent; Charuel, Jean-Luc; Frémond, Marie-Louise; Duffy, Darragh; Rodero, Mathieu P; Bader-Meunier, Brigitte Journal: Rheumatology Issue: Volume 60:Number 12(2021) Page Start: 5801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗