1. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (7th June 2016) Authors: Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schütz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nürnberg, Peter; Thiele, Holger; Kurlemann, G... Journal: Neurology Issue: Volume 86:Number 23(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017) Authors: Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 460 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. Issue 12 (11th September 2019) Authors: Courage, Carolina; Jackson, Christopher B.; Owczarek‐Lipska, Marta; Jamsheer, Aleksander; Sowińska‐Seidler, Anna; Piotrowicz, Małgorzata; Jakubowski, Lucjusz; Dallèves, Fanny; Riesch, Erik; Neidhardt, John; Lemke, Johannes R. Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Issue 2 (17th January 2018) Authors: Hofstaetter, Cornelia; Courage, Carolina; Bartholdi, Deborah; Biskup, Saskia; Raio, Luigi Journal: Clinical case reports Issue: Volume 6:Issue 2(2018) Page Start: 420 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. (12th December 2021) Authors: Canafoglia, Laura; Franceschetti, Silvana; Gambardella, Antonio; Striano, Pasquale; Giallonardo, Anna Teresa; Tinuper, Paolo; Di Bonaventura, Carlo; Michelucci, Roberto; Ferlazzo, Edoardo; Granata, Tiziana; Magaudda, Adriana; Licchetta, Laura; Filla, Alessandro; La Neve, Angela; Riguzzi, Patrizia... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. (December 2021) Authors: Canafoglia, Laura; Franceschetti, Silvana; Gambardella, Antonio; Striano, Pasquale; Giallonardo, Anna Teresa; Tinuper, Paolo; Di Bonaventura, Carlo; Michelucci, Roberto; Ferlazzo, Edoardo; Granata, Tiziana; Magaudda, Adriana; Licchetta, Laura; Filla, Alessandro; La Neve, Angela; Riguzzi, Patrizia... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS. Issue 2 (5th November 2020) Authors: Mazzola, Laure; Oliver, Karen L.; Labalme, Audrey; Baykan, Betül; Muona, Mikko; Joensuu, Tarja H.; Courage, Carolina; Chatron, Nicolas; Borsani, Giuseppe; Alix, Eudeline; Ramond, Francis; Touraine, Renaud; Bahlo, Melanie; Bebek, Nerses; Berkovic, Samuel F.; Lehesjoki, Anna‐Elina; Lesca, Gaetan Journal: Annals of neurology Issue: Volume 89:Issue 2(2021) Page Start: 402 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. Issue 1 (28th September 2016) Authors: Courage, Carolina; Jackson, Christopher B.; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean‐Marc; Gallati, Sabina; Schaller, André Journal: American journal of medical genetics Issue: Volume 173:Issue 1(2017) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice. Issue 4 (3rd March 2019) Authors: Pringsheim, Milka; Mitter, Diana; Schröder, Simone; Warthemann, Rita; Plümacher, Kim; Kluger, Gerhard; Baethmann, Martina; Bast, Thomas; Braun, Sarah; Büttel, Hans‐Martin; Conover, Elizabeth; Courage, Carolina; Datta, Alexandre N.; Eger, Angelika; Grebe, Theresa A.; Hasse‐Wittmer, Annette; Heruth... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 4(2019) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗