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Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Neurol Genet. 2022 Sep 28;8(5):e200020. doi: 10.1212/NXG.0000000000200020. eCollection 2022 Oct.
Neurol Genet. 2022.
PMID: 36187725
Free PMC article.
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).
Sonnek B, Döring JH, Mütze U, Schubert-Bast S, Bast T, Balke D, Reuner G, Schuler E, Klabunde-Cherwon A, Hoffmann GF, Kölker S, Syrbe S.
Sonnek B, et al. Among authors: klabunde cherwon a.
Eur J Paediatr Neurol. 2021 Jan;30:121-127. doi: 10.1016/j.ejpn.2020.10.010. Epub 2020 Oct 24.
Eur J Paediatr Neurol. 2021.
PMID: 33132036
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Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB.
Bölsterli BK, et al. Among authors: klabunde cherwon a.
Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605.
Nutrients. 2022.
PMID: 36079864
Free PMC article.
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Use of linezolid in neonatal and pediatric inpatient facilities--results of a retrospective multicenter survey.
Simon A, Müllenborn E, Prelog M, Schenk W, Holzapfel J, Ebinger F, Klabunde-Cherwon A, Faber J, Groll AH, Masjosthusmann K, Dohna-Schwake C, Beutel K, Dirkwinkel E, Lehrnbecher T, Ammann RA, Müller A.
Simon A, et al. Among authors: klabunde cherwon a.
Eur J Clin Microbiol Infect Dis. 2012 Jul;31(7):1435-42. doi: 10.1007/s10096-011-1461-1. Epub 2011 Nov 3.
Eur J Clin Microbiol Infect Dis. 2012.
PMID: 22048844
Free article.
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Kalm T, Schob C, Völler H, Gardeitchik T, Gilissen C, Pfundt R, Klöckner C, Platzer K, Klabunde-Cherwon A, Ries M, Syrbe S, Beccaria F, Madia F, Scala M, Zara F, Hofstede F, Simon MEH, van Jaarsveld RH, Oegema R, van Gassen KLI, Holwerda SJB, Barakat TS, Bouman A, van Slegtenhorst M, Álvarez S, Fernández-Jaén A, Porta J, Accogli A, Mancardi MM, Striano P, Iacomino M, Chae JH, Jang S, Kim SY, Chitayat D, Mercimek-Andrews S, Depienne C, Kampmeier A, Kuechler A, Surowy H, Bertini ES, Radio FC, Mancini C, Pizzi S, Tartaglia M, Gauthier L, Genevieve D, Tharreau M, Azoulay N, Zaks-Hoffer G, Gilad NK, Orenstein N, Bernard G, Thiffault I, Denecke J, Herget T, Kortüm F, Kubisch C, Bähring R, Kindler S.
Kalm T, et al. Among authors: klabunde cherwon a.
Am J Hum Genet. 2024 May 14:S0002-9297(24)00160-5. doi: 10.1016/j.ajhg.2024.04.019. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38772379
Free article.
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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Tessarech M, Friocourt G, Marguet F, Lecointre M, Le Mao M, Díaz RM, Mignot C, Keren B, Héron B, De Bie C, Van Gassen K, Loisel D, Delorme B, Syrbe S, Klabunde-Cherwon A, Jamra RA, Wegler M, Callewaert B, Dheedene A, Zidane-Marinnes M, Guichet A, Bris C, Van Bogaert P, Biquard F, Lenaers G, Marcorelles P, Ferec C, Gonzalez B, Procaccio V, Vitobello A, Bonneau D, Laquerriere A, Khiati S, Colin E.
Tessarech M, et al. Among authors: klabunde cherwon a.
Genet Med. 2024 May;26(5):101087. doi: 10.1016/j.gim.2024.101087. Epub 2024 Jan 27.
Genet Med. 2024.
PMID: 38288683
Free article.
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