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 Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Issue 2 (3rd June 2020) Authors: Echaniz‐Laguna, Andoni; Lornage, Xavière; Laforêt, Pascal; Orngreen, Mette C.; Edelweiss, Evelina; Brochier, Guy; Bui, Mai T.; Silva‐Rojas, Roberto; Birck, Catherine; Lannes, Béatrice; Romero, Norma B.; Vissing, John; Laporte, Jocelyn; Böhm, Johann Journal: Annals of neurology Issue: Volume 88:Issue 2(2020) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. Congenital Nemaline Myopathy with Dense Protein Masses. Issue 4 (9th February 2022) Authors: Bevilacqua, Jorge A; Malfatti, Edoardo; Labasse, Clémence; Brochier, Guy; Madelaine, Angeline; Lacène, Emmanuelle; Doray, Bérénice; Laforêt, Pascal; Eymard, Bruno; Rendu, John; Romero, Norma B Journal: Journal of neuropathology and experimental neurology Issue: Volume 81:Issue 4(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗