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Author/Creator Guerrini, Renzo

121. Pitfalls in genetic testing: the story of missed SCN1A mutations. Issue 4 (14th April 2016)

Authors:
Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah; Carvill, Gemma L.; Jaehn, Johanna; Anttonen, Anna‐Kaisa; Brilstra, Eva; Caglayan, Hande S.; de Kovel, Carolien G.; Depienne, Christel; Gaily, Eija; Gennaro, Elena; Giraldez, Beatriz G.; Gormley, Padhraig; Guerrero‐López, Rosa; Guerrini, Renzo;...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 4:Issue 4(2016)
Page Start:
457
Record Type:
Journal Article
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122. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Issue 8 (3rd July 2015)

Authors:
Hildebrand, Michael S.; Tankard, Rick; Gazina, Elena V.; Damiano, John A.; Lawrence, Kate M.; Dahl, Hans‐Henrik M.; Regan, Brigid M.; Shearer, Aiden Eliot; Smith, Richard J. H.; Marini, Carla; Guerrini, Renzo; Labate, Angelo; Gambardella, Antonio; Tinuper, Paolo; Lichetta, Laura; Baldassari, Sara...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Issue 8(2015:Aug.)
Page Start:
821
Record Type:
Journal Article
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123. Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy. (25th June 2020)

Authors:
Lenge, Matteo; Marini, Carla; Canale, Edoardo; Napolitano, Antonio; De Masi, Salvatore; Trivisano, Marina; Mei, Davide; Longo, Daniela; Rossi Espagnet, Maria Camilla; Lucenteforte, Ersilia; Barba, Carmen; Specchio, Nicola; Guerrini, Renzo
Journal:
Cerebral cortex
Issue:
Volume 30:Number 11(2020)
Page Start:
6039
Record Type:
Journal Article
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124. Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. Issue 10 (26th April 2021)

Authors:
Balestrini, Simona; Chiarello, Daniela; Gogou, Maria; Silvennoinen, Katri; Puvirajasinghe, Clinda; Jones, Wendy D; Reif, Philipp; Klein, Karl Martin; Rosenow, Felix; Weber, Yvonne G; Lerche, Holger; Schubert-Bast, Susanne; Borggraefe, Ingo; Coppola, Antonietta; Troisi, Serena; Møller, Rikke S; Ri...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 92:Issue 10(2021)
Page Start:
1044
Record Type:
Journal Article
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125. 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
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126. 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
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130. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. Issue 5 (May 2022)

Authors:
Knight, Elia M Pestana; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; Specchio, Nicola; Fleming, Thomas R; Aimetti, Alex A; Gasior, Maciej; Devinsky, Orrin; Belousova, Elena; Belyaev, Oleg; Ben-Zeev, Bruria; Brunklaus, Andreas; Ciliberto, Micha...
Journal:
Lancet neurology
Issue:
Volume 21:Issue 5(2022)
Page Start:
417
Record Type:
Journal Article
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