Search

Author/Creator Hardies, Katia

1. 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) ↗

2. Novel GABRG2 mutations cause familial febrile seizures. (December 2015)

Authors:
Boillot, Morgane; Morin-Brureau, Mélanie; Picard, Fabienne; Weckhuysen, Sarah; Lambrecq, Virginie; Minetti, Carlo; Striano, Pasquale; Zara, Federico; Iacomino, Michele; Ishida, Saeko; An-Gourfinkel, Isabelle; Daniau, Mailys; Hardies, Katia; Baulac, Michel; Dulac, Olivier; Leguern, Eric; Nabbout, ...
Journal:
Neurology
Issue:
Volume 1:Number 4(2015)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. PRRT2 mutations: exploring the phenotypical boundaries. Issue 4 (7th October 2013)

Authors:
Djémié, Tania; Weckhuysen, Sarah; Holmgren, Philip; Hardies, Katia; Van Dyck, Tine; Hendrickx, Rik; Schoonjans, An-Sofie; Van Paesschen, Wim; Jansen, Anna C; De Meirleir, Linda; Selim, Laila Abdel Moteleb; Girgis, Marian Y; Buyse, Gunnar; Lagae, Lieven; Smets, Katrien; Smouts, Iris; Claeys, Krist...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 85:Issue 4(2014)
Page Start:
462
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. 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) ↗

5. Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects. Issue 4 (22nd March 2017)

Authors:
Marini, Carla; Hardies, Katia; Pisano, Tiziana; May, Patrick; Weckhuysen, Sarah; Cellini, Elena; Suls, Arvid; Mei, Davide; Balling, Rudi; Jonghe, Peter D.; Helbig, Ingo; Garozzo, Domenico; Guerrini, Renzo
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 4(2017)
Page Start:
1119
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. Issue 5 (30th July 2016)

Authors:
de Kovel, Carolien G.F.; Brilstra, Eva H.; van Kempen, Marjan J.A.; van't Slot, Ruben; Nijman, Isaac J.; Afawi, Zaid; De Jonghe, Peter; Djémié, Tania; Guerrini, Renzo; Hardies, Katia; Helbig, Ingo; Hendrickx, Rik; Kanaan, Moine; Kramer, Uri; Lehesjoki, Anna‐Elina E.; Lemke, Johannes R.; Marini, C...
Other Names:
R Balling investigator.; N Barisic investigator.; S Baulac investigator.; HS Caglayan investigator.; DC Craiu investigator.; C Depienne investigator.; P Gormley investigator.; H Hjalgrim investigator.; D Hoffman‐Zacharska investigator.; J Jähn investigator.; KM Klein investigator.; V Komarek inve...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 5(2016)
Page Start:
568
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗