Search Results - Rima Nabbout

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  1. 1

    Innovative methodologies for rare diseases clinical trials by Rima Nabbout, Ralf-Dieter Hilgers

    Published in Orphanet Journal of Rare Diseases (2024-05-01)
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  2. 2

    Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data by Rima Nabbout, Rima Nabbout, Sara Matricardi, Sara Matricardi, Paola De Liso, Olivier Dulac, Mehdi Oualha

    Published in Frontiers in Neurology (2023-04-01)
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  3. 3

    Efficacy of anti‐seizure medications and alternative therapies (ketogenic diet, CBD, and quinidine) in KCNT1‐related epilepsy: A systematic review by Mathilde Gras, David Bearden, Justin West, Rima Nabbout

    Published in Epilepsia Open (2024-08-01)
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  4. 4

    Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy by Mathieu Kuchenbuch, Gianluca D'Onofrio, Nicole Chemaly, Giulia Barcia, Théo Teng, Rima Nabbout

    Published in Epilepsia Open (2020-09-01)
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  5. 5

    Composite endpoints, including patient reported outcomes, in rare diseases by Johan Verbeeck, Maya Dirani, Johann W. Bauer, Ralf-Dieter Hilgers, Geert Molenberghs, Rima Nabbout

    Published in Orphanet Journal of Rare Diseases (2023-09-01)
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  6. 6

    GATAD2B‐related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal by Giovanna Scorrano, Giulia Barcia, Jérôme Champ, Thomas Courtin, Nathalie Boddaert, Anna Kaminska, Nicole Chemaly, Rima Nabbout

    Published in Epilepsia Open (2025-04-01)
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  7. 7

    Methodological insights from the EPISTOP trial to designing clinical trials in rare diseases-A secondary analysis of a randomized clinical trial. by Stephanie Wied, Ralf-Dieter Hilgers, Nicole Heussen, Katarzyna Kotulska, Maya Dirani, Mathieu Kuchenbuch, Sergiusz Jozwiak, Rima Nabbout

    Published in PLoS ONE (2024-01-01)
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  8. 8

    Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status... by Paola De Liso, Virginia Pironi, Massimo Mastrangelo, Domenica Battaglia, Dana Craiu, Marina Trivisano, Nicola Specchio, Rima Nabbout, Federico Vigevano

    Published in Brain Sciences (2021-06-01)
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  9. 9

    Fatal Status Epilepticus in Dravet Syndrome by Paola De Liso, Virginia Pironi, Massimo Mastrangelo, Domenica Battaglia, Dana Craiu, Marina Trivisano, Nicola Specchio, Rima Nabbout, Federico Vigevano

    Published in Brain Sciences (2020-11-01)
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  10. 10

    Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood by Rocio Garcia‐Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout

    Published in Epilepsia Open (2024-08-01)
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  11. 11

    Multi-stakeholder sessions on major innovation topics in rare disease clinical trials by Daniel Bodden, Stefanie Schoenen, Stephanie Wied, Johan Verbeeck, Maya Dirani, Hiba Abou Daya, Nicole Heussen, Geert Molenberghs, Ralf-Dieter Hilgers, Rima Nabbout

    Published in Orphanet Journal of Rare Diseases (2024-12-01)
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  12. 12

    Together4RD position statement on collaboration between European reference networks and industry by Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout, Clara Romero, Franz Schaefer, Sheela Upadhyaya, Together4RD Steering Group

    Published in Orphanet Journal of Rare Diseases (2023-09-01)
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  13. 13

    A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families by Nicole Chemaly, Mathieu Kuchenbuch, Théo Teng, Elodie Marie, Gianluca D'Onofrio, Tommaso Lo Barco, Isabella Brambilla, Silke Flege, Anne‐Sophie Hallet, Rima Nabbout

    Published in Epilepsia Open (2024-02-01)
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  14. 14

    Istore: a project on innovative statistical methodologies to improve rare diseases clinical trials in limited populations by Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs, Rima Nabbout

    Published in Orphanet Journal of Rare Diseases (2024-03-01)
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  15. 15

    Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex – Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy by Petrus J. de Vries, David N. Franz, Paolo Curatolo, Rima Nabbout, Maureen Neary, Fabian Herbst, Kate Sully, Elaine Brohan, Bryan Bennett, John A. Lawson

    Published in Frontiers in Pharmacology (2018-08-01)
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  16. 16

    Exploring transition in epilepsy within ERN EpiCARE centers: Insights from a survey analysis by Valentina De Giorgis, Masa Malenica, Ludovica Pasca, Irena Bibic, Vedrana Bibic, Francesca Bisulli, Francesca Darra, Tiziana Granata, Francesca Ragona, Guido Rubboli, Belén Trebino Harrington, Isabella Brambilla, Rima Nabbout

    Published in Epilepsia Open (2025-10-01)
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  17. 17

    Targeting shared molecular etiologies to accelerate drug development for rare diseases by Galliano Zanello, Macarena Garrido‐Estepa, Ana Crespo, Daniel O'Connor, Rima Nabbout, Christina Waters, Anthony Hall, Maurizio Taglialatela, Chun‐Hung Chan, David A Pearce, Marc Dooms, Philip John Brooks

    Published in EMBO Molecular Medicine (2023-06-01)
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  18. 18

    Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey by Sam Amin, Rikke S. Møller, Angel Aledo‐Serrano, Alexis Arzimanoglou, Patrick Bager, Sergiusz Jóźwiak, Gerhard Josef Kluger, Sandra López‐Cabeza, Rima Nabbout, Carol‐Anne Partridge, Susanne Schubert‐Bast, Nicola Specchio, Reetta Kälviäinen

    Published in Epilepsia Open (2024-06-01)
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  19. 19

    Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force by Rima Nabbout, Galliano Zanello, Dixie Baker, Lora Black, Isabella Brambilla, Orion J. Buske, Laurie S. Conklin, Elin Haf Davies, Daria Julkowska, Yeonju Kim, Thomas Klopstock, Harumasa Nakamura, Kim G. Nielsen, Anne R. Pariser, Jose Carlos Pastor, Maurizio Scarpa, Maureen Smith, Domenica Taruscio, Stephen Groft

    Published in Orphanet Journal of Rare Diseases (2023-05-01)
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  20. 20

    Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies by Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout

    Published in Epilepsia Open (2025-08-01)
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