1. 255 SUNFISH part 2: risdiplam in type 2 and type 3 SMA. Issue 6 (27th May 2022) Authors: Servais, Laurent; Mercuri, Eugenio; Barisic, Nina; Boespflug-Tanguy, Odile; Deconinck, Nicolas; Fuerst-Recktenwald, Sabine; Fuhrer, Sibylle; Gerber, Marianne; Gorni, Ksenija; Day, John W Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. Issue 5 (9th February 2022) Authors: Yiu, Eppie M; Bray, Paula; Baets, Jonathan; Baker, Steven K; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A; Finkel, Richard S; Haberlová, Jana; Kennedy, Rachel A; Moroni, Isabella; Nicholson, Garth A; Ramchandren, Sindhu; Reilly, Mary M; Rose, Kristy; Shy, Michael E; Siskind... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 5(2022) Page Start: 530 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. High association of MOG-IgG antibodies in children with bilateral optic neuritis. (July 2020) Authors: Wendel, Eva-Maria; Baumann, Matthias; Barisic, Nina; Blaschek, Astrid; Coelho de Oliveira Koch, Eliana; Della Marina, Adela; Diepold, Katharina; Hackenberg, Annette; Hahn, Andreas; von Kalle, Thekla; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Leiz, Steffen; Merkenschlager, Andreas; ... Journal: European journal of paediatric neurology Issue: Volume 27(2020) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene. (16th October 2020) Authors: Matricardi, Sara; De Liso, Paola; Freri, Elena; Costa, Paola; Castellotti, Barbara; Magri, Stefania; Gellera, Cinzia; Granata, Tiziana; Musante, Luciana; Lesca, Gaetan; Oertel, Julie; Craiu, Dana; Hammer, Trine B.; Møller, Rikke S.; Barisic, Nina; Abou Jamra, Rami; Polster, Tilman; Vigevano, Fede... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2474 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. (30th December 2014) Authors: Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F... Journal: Human molecular genetics Issue: Volume 24:Number 8(2015:Apr. 15) Page Start: 2218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Issue 12 (December 2022) Authors: Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Rose, Kristy; Servais, Laurent; Xiong, Hui; Zanoteli, Edmar; Baranello, Giovanni; Bruno, Claudio; Day, John W; Deconinck, Nicolas; Klein, Andrea; Mercuri, Eugenio; Vlodavets, Dmitry; Wang, Yi; Dodman, Angela; El-Khairi, Muna; Gorni, Ksenija; Jaber... Journal: Lancet neurology Issue: Volume 21:Issue 12(2022) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome. Issue 6 (13th November 2022) Authors: Wendel, Eva Maria; Thonke, Helen Sophie; Bertolini, Annikki; Baumann, Matthias; Blaschek, Astrid; Merkenschlager, Andreas; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Pohl, Daniela; Pritsch, Martin; Schanda, Kathrin; Schimmel, Mareike; Thiels, Charlotte; Waltz, Stephan; Wiegand, Gert... Journal: Neurology Issue: Volume 9:Issue 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗