1. 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) ↗
2. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Issue 1 (January 2021) Authors: Adams, David; Polydefkis, Michael; González-Duarte, Alejandra; Wixner, Jonas; Kristen, Arnt V; Schmidt, Hartmut H; Berk, John L; Losada López, Inés Asunción; Dispenzieri, Angela; Quan, Dianna; Conceição, Isabel M; Slama, Michel S; Gillmore, Julian D; Kyriakides, Theodoros; Ajroud-Driss, Senda; Wa... Journal: Lancet neurology Issue: Volume 20:Issue 1(2021) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Issue 1 (January 2021) Authors: Adams, David; Polydefkis, Michael; González-Duarte, Alejandra; Wixner, Jonas; Kristen, Arnt V; Schmidt, Hartmut H; Berk, John L; Losada López, Inés Asunción; Dispenzieri, Angela; Quan, Dianna; Conceição, Isabel M; Slama, Michel S; Gillmore, Julian D; Kyriakides, Theodoros; Ajroud-Driss, Senda; Wa... Journal: Lancet neurology Issue: Volume 20:Issue 1(2021) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Motor axonal neuropathy associated with GNE mutations. Issue 3 (24th December 2020) Authors: Grecu, Nicolae; Villa, Luisa; Cavalli, Michele; Ristaino, Antoine; Choumert, Ariane; Butori, Catherine; Salviati, Leonardo; Puma, Angela; Krahn, Martin; Cerino, Mathieu; Sacconi, Sabrina Journal: Muscle & nerve Issue: Volume 63:Issue 3(2021) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗