1. Actionable Genes, Core Databases, and Locus‐Specific Databases. Issue 12 (26th September 2016) Authors: Pinard, Amélie; Miltgen, Morgane; Blanchard, Arnaud; Mathieu, Hélène; Desvignes, Jean‐Pierre; Salgado, David; Fabre, Aurélie; Arnaud, Pauline; Barré, Laura; Krahn, Martin; Grandval, Philippe; Olschwang, Sylviane; Zaffran, Stéphane; Boileau, Catherine; Béroud, Christophe; Collod‐Béroud, Gwenaëlle Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy. Issue 12 (27th October 2020) Authors: Cerino, Mathieu; Bartoli, Marc; Riccardi, Florence; Le Goanvic, Brigitte; Blanck, Véronique; Salvi, Alexandra; Lévy, Nicolas; Krahn, Martin; Choumert, Ariane Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 12(2020) Page Start: 2538 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. (December 2017) Authors: Ben Yaou, Rabah; Hubert, Aurélie; Nelson, Isabelle; Dahlqvist, Julia R.; Gaist, David; Streichenberger, Nathalie; Beuvin, Maud; Krahn, Martin; Petiot, Philippe; Parisot, Frédéric; Michel, Fabrice; Malfatti, Edoardo; Romero, Norma; Carlier, Robert Yves; Eymard, Bruno; Labrune, Philippe; Duno, Mort... Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comment on: A novel dysferlin‐mutant pseudoexon bypassed with antisense oligonucleotides. Issue 7 (8th June 2015) Authors: Kergourlay, Virginie; Blandin, Gaëlle; Blanck, Véronique; Lévy, Nicolas; Bartoli, Marc; Krahn, Martin Journal: Annals of clinical and translational neurology Issue: Volume 2:Issue 7(2015:Jul.) Page Start: 783 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy. Issue 8 (14th June 2020) Authors: Cerino, Mathieu; Di Meglio, Chloé; Albertini, Francesca; Audic, Frédérique; Riccardi, Florence; Boulay, Christophe; Philip, Nicole; Bartoli, Marc; Lévy, Nicolas; Krahn, Martin; Chabrol, Brigitte Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 8(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene. Issue 12 (December 2014) Authors: Kergourlay, Virginie; Raï, Ghadi; Blandin, Gaëlle; Salgado, David; Béroud, Christophe; Lévy, Nicolas; Krahn, Martin; Bartoli, Marc Journal: Human mutation Issue: Volume 35:Issue 12(2014:Dec.) Page Start: 1532 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗