日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

小鼠模型中KPTN相关疾病的临床谱和神经发育发病机制

Rawlins, Lettie E; Iffland, Philip H 2nd; Page, John; Flessner, Rebecca Z; Elziny, Soad M; Sbornova, Irina; Babus, Janice K; Bruckmeier, Sophie R; Parikh, Ria; Verhoeven, Merel; Fasham, James; Leslie, Joseph S; Caswell, Richard; Ubeyratna, Nishanka; Wenger, Olivia; Scott, Ethan M; Schreiber, John; Syrbe, Steffen; Klabunde-Cherwon, Annick; Owens, Martina; Crosby, Andrew H; Baple, Emma L; Crino, Peter B

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

KCND1变异体与X连锁神经发育障碍的病因学关联,该障碍具有可变表达性

Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E H; van Jaarsveld, Richard H; Oegema, Renske; van Gassen, Koen L I; Holwerda, Sjoerd J B; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.

生酮饮食治疗线粒体苹果酸天冬氨酸穿梭和丙酮酸载体缺陷

Bölsterli Bigna K, Boltshauser Eugen, Palmieri Luigi, Spenger Johannes, Brunner-Krainz Michaela, Distelmaier Felix, Freisinger Peter, Geis Tobias, Gropman Andrea L, Häberle Johannes, Hentschel Julia, Jeandidier Bruno, Karall Daniela, Keren Boris, Klabunde-Cherwon Annick, Konstantopoulou Vassiliki, Kottke Raimund, Lasorsa Francesco M, Makowski Christine, Mignot Cyril, O'Gorman Tuura Ruth, Porcelli Vito, Santer René, Sen Kuntal, Steinbrücker Katja, Syrbe Steffen, Wagner Matias, Ziegler Andreas, Zöggeler Thomas, Mayr Johannes A, Prokisch Holger, Wortmann Saskia B

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

PRRT2相关婴儿癫痫抗癫痫药物的疗效、耐受性和维持率

Döring, Jan H; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G; Klabunde-Cherwon, Annick; Kluger, Gerhard; Muhle, Hiltrud; Pendziwiat, Manuela; Møller, Rikke S; Platzer, Konrad; Santos, Joana Larupa; Schröter, Julian; Hoffmann, Georg F; Kölker, Stefan; Syrbe, Steffen