1. 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) ↗
2. Motor unit number index correlates with disability in Charcot-Marie-Tooth disease. Issue 7 (July 2018) Authors: Bas, Joachim; Delmont, Emilien; Fatehi, Farzad; Salort-Campana, Emmanuelle; Verschueren, Annie; Pouget, Jean; Lefebvre, Marie-Noëlle; Grapperon, Aude-Marie; Attarian, Shahram Journal: Clinical neurophysiology Issue: Volume 129:Issue 7(2018:Jul.) Page Start: 1390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases. Issue 8 (12th June 2020) Authors: Zereg, Elamine; Chaussenot, Annabelle; Morel, Godelieve; Bannwarth, Sylvie; Sacconi, Sabrina; Soriani, Marie‐Hélène; Attarian, Shahram; Cano, Aline; Pouget, Jean; Bellance, Rémi; Tranchant, Christine; Lannes, Béatrice; de Paula, André Maues; Saadi Ait‐El‐Mkadem, Samira; Chafino, Bernadette; Berth... Journal: Human mutation Issue: Volume 41:Issue 8(2020) Page Start: 1394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. PATISIRAN PH 2 OPEN-LABEL EXTENSION STUDY IN FAMILIAL AMYLOIDOTIC POLYNEUROPATHY. Issue 12 (15th November 2016) Authors: Schmidt, Hartmut; Adams, David; Coelho, Teresa; Conceicao, Isabel; Waddington-Cruz, Marcia; Buades, Juan; Campistol, Josep; Pouget, Jean; Gollob, Jared; Suhr, Ole Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 12(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy. (24th January 2017) Authors: Richard, Pascale; Trollet, Capucine; Stojkovic, Tanya; de Becdelievre, Alix; Perie, Sophie; Pouget, Jean; Eymard, Bruno Journal: Neurology Issue: Volume 88:Number 4(2017) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Characteristics of patients with vitamin B12-responsive neuropathy: a case series with systematic repeated electrophysiological assessment. (3rd June 2019) Authors: Franques, Jérôme; Chiche, Laurent; De Paula, André Maues; Grapperon, Aude Marie; Attarian, Shahram; Pouget, Jean; Mathis, Stephane Journal: Neurological research Issue: Volume 41:Number 6(2019) Page Start: 569 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. 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) ↗
10. 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) ↗