يعرض 1 - 10 نتائج من 1,579 نتيجة بحث عن '"Nabbout, Rima"', وقت الاستعلام: 0.94s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood

    المؤلفون: Garcia‐Uzquiano, Rocio, Barcia, Giulia, Losito, Emma, Chemaly, Nicole, Kaminska, Anna, Desguerre, Isabelle, Blauwblomme, Thomas, Boddaert, Nathalie, Nabbout, Rima

    المصدر: Epilepsia Open ; ISSN 2470-9239 2470-9239

    الإتاحة: https://doi.org/10.1002/epi4.12964Test

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  2. 2
    دورية أكاديمية
    Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey

    المؤلفون: Amin, Sam, Møller, Rikke S., Aledo‐Serrano, Angel, Arzimanoglou, Alexis, Bager, Patrick, Jóźwiak, Sergiusz, Kluger, Gerhard Josef, López‐Cabeza, Sandra, Nabbout, Rima, Partridge, Carol‐Anne, Schubert‐Bast, Susanne, Specchio, Nicola, Kälviäinen, Reetta

    المصدر: Epilepsia Open ; volume 9, issue 3, page 832-849 ; ISSN 2470-9239 2470-9239

    الإتاحة: https://doi.org/10.1002/epi4.12914Test

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  3. 3
    دورية أكاديمية
    Optimization of vigabatrin dosage in children with epileptic spasms: A population pharmacokinetic approach

    المؤلفون: Molimard, Agathe, Foissac, Frantz, Bouazza, Naïm, Gana, Inès, Benaboud, Sihem, Froelicher, Léo, Hirt, Déborah, Urien, Saïk, Desguerre, Isabelle, Treluyer, Jean‐Marc, Chemaly, Nicole, Nabbout, Rima

    المصدر: British Journal of Clinical Pharmacology ; ISSN 0306-5251 1365-2125

    الإتاحة: https://doi.org/10.1111/bcp.16072Test

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  4. 4
    دورية أكاديمية
    Placebo response in patients with Dravet syndrome: Post-hoc analysis of two clinical trials

    المؤلفون: Devinsky, Orrin, Hyland, Kerry, Loftus, Rachael, Nortvedt, Charlotte, Nabbout, Rima

    المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

    المصدر: ISSN: 1525-5050.

    مصطلحات موضوعية: Dravet syndrome, Natural history, Placebo, [SDV]Life Sciences [q-bio]

    العلاقة: hal-04581736; https://u-paris.hal.science/hal-04581736Test; https://u-paris.hal.science/hal-04581736/documentTest; https://u-paris.hal.science/hal-04581736/file/PIIS1525505024001860.pdfTest

    الإتاحة: https://doi.org/10.1016/j.yebeh.2024.109805Test
    https://u-paris.hal.science/hal-04581736Test
    https://u-paris.hal.science/hal-04581736/documentTest
    https://u-paris.hal.science/hal-04581736/file/PIIS1525505024001860.pdfTest

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  5. 5
    دورية أكاديمية
    Response: Do all individuals with Dravet syndrome have intellectual disability?

    المؤلفون: Zuberi, Sameer M., Wirrell, Elaine, Tinuper, Paolo, Nabbout, Rima

    وصف الملف: text

    العلاقة: https://eprints.gla.ac.uk/324688/1/324688.pdfTest; Zuberi, S. M. , Wirrell, E., Tinuper, P. and Nabbout, R. (2024) Response: Do all individuals with Dravet syndrome have intellectual disability? Epilepsia , (doi:10.1111/epi.17919 ) (PMID:38597521)

    الإتاحة: https://eprints.gla.ac.uk/324688Test/
    https://eprints.gla.ac.uk/324688/1/324688.pdfTest

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  6. 6
    دورية أكاديمية
    Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies

    المؤلفون: Gallagher, Declan, Pérez-Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas

    المصدر: Gallagher , D , Pérez-Palma , E , Bruenger , T , Ghanty , I , Brilstra , E , Ceulemans , B , Chemaly , N , de Lange , I , Depienne , C , Guerrini , R , Mei , D , Møller , R S , Nabbout , R , Regan , B M , Schneider , A L , Scheffer , I E , Schoonjans , A S , Symonds , J D , Weckhuysen , S , Zuberi , S M , Lal , D & Brunklaus , A 2024 , ' Genotype–phenotype ....

    مصطلحات موضوعية: Dravet syndrome, GEFS+, genotype–phenotype associations, SCN1A, severe myoclonic epilepsy of infancy, Epilepsies, Myoclonic/genetics, Genetic Association Studies, Mutation/genetics, Humans, Status Epilepticus, NAV1.1 Voltage-Gated Sodium Channel/genetics, Seizures, Febrile/genetics, Phenotype, Epilepsy/genetics, Retrospective Studies

    وصف الملف: application/pdf

    العلاقة: https://portal.findresearcher.sdu.dk/da/publications/40f9e55e-7640-43a1-a352-78c1299f0a67Test

    الإتاحة: https://doi.org/10.1111/epi.17882Test
    https://portal.findresearcher.sdu.dk/da/publications/40f9e55e-7640-43a1-a352-78c1299f0a67Test
    https://findresearcher.sdu.dk/ws/files/260028774/Open_Access_Version.pdfTest

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  7. 7
    دورية أكاديمية
    Which terms should be used to describe medications used in the treatment of seizure disorders? An ILAE position paper

    المؤلفون: Perucca, Emilio, French, Jacqueline A., Aljandeel, Ghaieb, Balestrini, Simona, Braga, Patricia, Burneo, Jorge G., Felli, Augustina Charway, Cross, J. Helen, Galanopoulou, Aristea S., Jain, Satish, Jiang, Yuwu, Kälviäinen, Reetta, Lim, Shih Hui, Meador, Kimford J., Mogal, Zarine, Nabbout, Rima, Sofia, Francesca, Somerville, Ernest, Sperling, Michael R., Triki, Chahnez, Trinka, Eugen, Walker, Matthew C., Wiebe, Samuel, Wilmshurst, Jo M., Wirrell, Elaine, Yacubian, Elza Márcia, Kapur, Jaideep

    المصدر: Epilepsia ; volume 65, issue 3, page 533-541 ; ISSN 0013-9580 1528-1167

    الإتاحة: https://doi.org/10.1111/epi.17877Test

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  8. 8
    دورية أكاديمية
    Targeting shared molecular etiologies to accelerate drug development for rare diseases

    المؤلفون: Zanello, Galliano, Garrido-Estepa, Macarena, Crespo, Ana, O'Connor, Daniel, Nabbout, Rima, Waters, Christina, Hall, Anthony, Taglialatela, Maurizio, Chan, Chun-Hung, Pearce, David A, Dooms, Marc, Brooks, Philip John

    المساهمون: Zanello, Galliano, Garrido-Estepa, Macarena, Crespo, Ana, O'Connor, Daniel, Nabbout, Rima, Waters, Christina, Hall, Anthony, Taglialatela, Maurizio, Chan, Chun-Hung, Pearce, David A, Dooms, Marc, Brooks, Philip John

    مصطلحات موضوعية: IRDiRC, basket clinical trial, rare disease, shared molecular etiologie, therapeutic development

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001016619700001; volume:15; issue:7; firstpage:epub; numberofpages:10; journal:EMBO MOLECULAR MEDICINE; https://hdl.handle.net/11588/932750Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162936913

    الإتاحة: https://doi.org/10.15252/emmm.202217159Test
    https://hdl.handle.net/11588/932750Test

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  9. 9
    دورية أكاديمية
    Composite endpoints, including patient reported outcomes, in rare diseases

    المؤلفون: VERBEECK, Johan, Dirani, Maya, Bauer, Johann W., Hilgers, Ralf-Dieter, MOLENBERGHS, Geert, Nabbout, Rima

    المساهمون: Verbeeck, Johan/0000-0002-4923-1032, VERBEECK, Johan, Dirani, Maya, Bauer, Johann W., Hilgers, Ralf-Dieter, MOLENBERGHS, Geert, Nabbout, Rima

    مصطلحات موضوعية: EJP-RD, Epidermolysis bullosa, Generalized pairwise comparisons, Composite endpoints, Quality of life, Rare disease, Patient reported outcomes

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/grantAgreement/EC/H2020/825575; Orphanet Journal of Rare Diseases, 18 (1) (Art N° 262); http://hdl.handle.net/1942/40906Test; 18; 001057082300003

    الإتاحة: https://doi.org/10.1186/s13023-023-02819-xTest
    http://hdl.handle.net/1942/40906Test

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  10. 10
    دورية أكاديمية
    Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data

    المؤلفون: Nabbout, Rima, Matricardi, Sara, De Liso, Paola, Dulac, Olivier, Oualha, Mehdi

    المساهمون: Nabbout, Rima, Matricardi, Sara, De Liso, Paola, Dulac, Olivier, Oualha, Mehdi

    مصطلحات موضوعية: NORSE, New-Onset Refractory Status Epilepticus, FIRES, febrile infection-related epilepsy syndrome, SRSE, super refractory status epilepticus, ketogenic diet, KD

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000976835100001; volume:14; firstpage:1; lastpage:21; numberofpages:21; journal:FRONTIERS IN NEUROLOGY; https://hdl.handle.net/11564/804572Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153740727; https://www.frontiersin.org/articles/10.3389/fneur.2023.1134827/fullTest

    الإتاحة: https://doi.org/10.3389/fneur.2023.1134827Test
    https://hdl.handle.net/11564/804572Test

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