1. A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene. (15th April 2016) Authors: Ambrosi, Pierre; Kreitmann, Bernard; Lepidi, Hubert; Habib, Gilbert; Levy, Nicolas; Philip, Nicole; De Sandre-Giovannoli, Annachiara Journal: International journal of cardiology Issue: Volume 209(2016) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients. Issue 5 (November 2017) Authors: Paci, Marine; Elkhatib, Razan; Longepied, Guy; Hennebicq, Sylviane; Bessonat, Julien; Courbière, Blandine; Bourgeois, Patrice; Levy, Nicolas; Mitchell, Michael J.; Metzler-Guillemain, Catherine Journal: Reproductive biomedicine online Issue: Volume 35:Issue 5(2017) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation. Issue 4 (3rd March 2019) Authors: Dominov, Janice A.; Uyan, Özgün; McKenna‐Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmuller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H. Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Entire CAPN3 gene deletion in a patient with limb‐girdle muscular dystrophy type 2A. Issue 3 (5th August 2014) Authors: Jaka, Oihane; Azpitarte, Margarita; Paisán‐Ruiz, Coro; Zulaika, Miren; Casas‐Fraile, Leire; Sanz, Raúl; Trevisiol, Nathalie; Levy, Nicolas; Bartoli, Marc; Krahn, Martin; López de Munain, Adolfo; Sáenz, Amets Journal: Muscle & nerve Issue: Volume 50:Issue 3(2014:Sep.) Page Start: 448 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evidence of SARS-CoV-2 re-infection with a different genotype. Issue 4 (April 2021) Authors: Colson, Philippe; Finaud, Michael; Levy, Nicolas; Lagier, Jean-Christophe; Raoult, Didier Journal: Journal of infection Issue: Volume 82:Issue 4(2021) Page Start: 84 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. High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome. (January 2020) Authors: Bonello-Palot, Nathalie; Laine, Marc; Cuisset, Thomas; Ronchard, Thibault; Desgrouas, Camille; Merono, Françoise; Ibrahim-Kosta, Manal; Cerino, Mathieu; Blanchard, Arnaud; Bourgeois, Patrice; Levy, Nicolas; Loundou, Anderson; Morange, Pierre-Emmanuel; Alessi, Marie-Christine; Badens, Catherine; B... Journal: Atherosclerosis Issue: Volume 293(2020) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. HINT1 neuropathy: Expanding the genotype and phenotype spectrum. Issue 5 (16th August 2022) Authors: Morel, Victor; Campana‐Salort, Emmanuelle; Boyer, Amandine; Esselin, Florence; Walther‐Louvier, Ulrike; Querin, Giorgia; Latour, Philippe; Lia, Anne‐Sophie; Magdelaine, Corinne; Beze‐Beyrie, Pierre; Behin, Anthony; Delague, Valérie; Levy, Nicolas; Stojkovic, Tanya; Attarian, Shahram; Bonello‐Palo... Journal: Clinical genetics Issue: Volume 102:Issue 5(2022) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing. Issue 3 (17th March 2015) Authors: Sevy, Amandine; Cerino, Mathieu; Gorokhova, Svetlana; Dionnet, Eugénie; Mathieu, Yves; Verschueren, Annie; Franques, Jérôme; Maues de Paula, André; Figarella-Branger, Dominique; Lagarde, Arnaud; Desvignes, Jean Pierre; Béroud, Christophe; Attarian, Shahram; Levy, Nicolas; Bartoli, Marc; Krahn, Ma... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 3(2016) Page Start: 340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome. (5th March 2014) Authors: Blondel, Sophie; Jaskowiak, Anne-Laure; Egesipe, Anne-Laure; Le Corf, Amelie; Navarro, Claire; Cordette, Véronique; Martinat, Cécile; Laabi, Yacine; Djabali, Karima; de Sandre-Giovannoli, Annachiara; Levy, Nicolas; Peschanski, Marc; Nissan, Xavier Journal: Stem cells translational medicine Issue: Volume 3:Number 4(2014) Page Start: 510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗