1. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. Issue 6 (11th August 2014) Authors: Tchikviladzé, Maya; Gilleron, Mylène; Maisonobe, Thierry; Galanaud, Damien; Laforêt, Pascal; Durr, Alexandra; Eymard, Bruno; Mochel, Fanny; Ogier, Hélène; Béhin, Anthony; Stojkovic, Tanya; Degos, Bertrand; Gourfinkel-An, Isabelle; Sedel, Frederic; Anheim, Mathieu; Elbaz, Alexis; Viala, Karine; Vi... Other Names: Lemière Isabelle author non-byline.; Filaut Sandrine author non-byline.; Dubourg Odile author non-byline. Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 6(2015) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A high prevalence of arterial hypertension in patients with mitochondrial diseases. Issue 3 (15th December 2019) Authors: Chong‐Nguyen, Caroline; Stalens, Caroline; Goursot, Yves; Bougouin, Wulfran; Stojkovic, Tanya; Béhin, Anthony; Mochel, Fanny; Berber, Nawal; Eymard, Bruno; Duboc, Denis; Laforêt, Pascal; Wahbi, Karim Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 3(2020) Page Start: 478 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. (12th January 2016) Authors: Habbout, Karima; Poulin, Hugo; Rivier, François; Giuliano, Serena; Sternberg, Damien; Fontaine, Bertrand; Eymard, Bruno; Morales, Raul Juntas; Echenne, Bernard; King, Louise; Hanna, Michael G.; Männikkö, Roope; Chahine, Mohamed; Nicole, Sophie; Bendahhou, Said Journal: Neurology Issue: Volume 86:Number 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy. Issue 1 (January 2019) Authors: Mohassel, Payam; Landon-Cardinal, Océane; Foley, A. Reghan; Donkervoort, Sandra; Pak, Katherine S.; Wahl, Colleen; Shebert, Robert T.; Harper, Amy; Fequiere, Pierre; Meriggioli, Matthew; Toro, Camilo; Drachman, Daniel; Allenbach, Yves; Benveniste, Olivier; Béhin, Anthony; Eymard, Bruno; Lafôret, ... Journal: Neurology Issue: Volume 6:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report. Issue 4 (January 2019) Authors: Fayssoil, Abdallah; Stojkovic, Tanya; Ogna, Adam; Laforet, Pascal; Prigent, Helene; Lofaso, Frederic; Orlikowski, David; Bassez, Guillaume; Eymard, Bruno; Behin, Anthony Other Names: NA. section editor. Journal: Medicine Issue: Volume 98:Issue 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. (June 2017) Authors: Chong-Nguyen, Caroline; Wahbi, Karim; Algalarrondo, Vincent; Bécane, Henri Marc; Radvanyi-Hoffman, Hélène; Arnaud, Pauline; Furling, Denis; Lazarus, Arnaud; Bassez, Guillaume; Béhin, Anthony; Fayssoil, Abdallah; Laforêt, Pascal; Stojkovic, Tanya; Eymard, Bruno; Duboc, Denis Journal: Circulation Issue: Volume 10:Number 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Atypical phenotypes in titinopathies explained by second titin mutations. Issue 2 (24th February 2014) Authors: Evilä, Anni; Vihola, Anna; Sarparanta, Jaakko; Raheem, Olayinka; Palmio, Johanna; Sandell, Satu; Eymard, Bruno; Illa, Isabel; Rojas‐Garcia, Ricard; Hankiewicz, Karolina; Negrão, Luis; Löppönen, Tuija; Nokelainen, Pekka; Kärppä, Mikko; Penttilä, Sini; Screen, Mark; Suominen, Tiina; Richard, Isabel... Journal: Annals of neurology Issue: Volume 75:Issue 2(2014:Feb.) Page Start: 230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations. Issue 5 (25th February 2017) Authors: Echaniz‐Laguna, Andoni; Geuens, Thomas; Petiot, Philippe; Péréon, Yann; Adriaenssens, Elias; Haidar, Mansour; Capponi, Simona; Maisonobe, Thierry; Fournier, Emmanuel; Dubourg, Odile; Degos, Bertrand; Salachas, François; Lenglet, Timothée; Eymard, Bruno; Delmont, Emilien; Pouget, Jean; Juntas Mora... Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗