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39 results

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Page 1
DCX-Related Disorders.
Geis T, Uyanik G, Aigner L, Couillard-Despres S, Winkler J, Hehr U. Geis T, et al. 2007 Oct 19 [updated 2025 Jun 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2007 Oct 19 [updated 2025 Jun 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301364 Free Books & Documents. Review.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492. JAMA Pediatr. 2024. PMID: 38587854 Free PMC article. Clinical Trial.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
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: geis t. Nutrients. 2022 Aug 31;14(17):3605. doi: 10.3390/nu14173605. Nutrients. 2022. PMID: 36079864 Free PMC article.
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. Oegema R, et al. Among authors: geis t. Nat Rev Neurol. 2020 Nov;16(11):618-635. doi: 10.1038/s41582-020-0395-6. Epub 2020 Sep 7. Nat Rev Neurol. 2020. PMID: 32895508 Free PMC article. Review.
Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy.
Sommer S, Panzer A, Bertolini A, Cleaveland R, Jain V, Kapanci T, Derichs U, Geis T, Neu A, Löhr-Nilles C, Aeschimann-Huhn R, Flotats-Bastardas M, Deiva K, Armangue T, Olivé-Cirera G, Kannoth S, Koy A, Meirson H, Fattal-Valevski A, Ganelin-Cohen E, Losch H, Horne A, Wickström R, Dargvainiene J, Leypoldt F, Rostasy K. Sommer S, et al. Among authors: geis t. Neurol Neuroimmunol Neuroinflamm. 2025 Jan;12(1):e200327. doi: 10.1212/NXI.0000000000200327. Epub 2024 Nov 20. Neurol Neuroimmunol Neuroinflamm. 2025. PMID: 39566024 Free PMC article.
Serum neurofilament light chain reference database for individual application in paediatric care: a retrospective modelling and validation study.
Abdelhak A, Petermeier F, Benkert P, Schädelin S, Oechtering J, Maleska Maceski A, Kabesch M, Geis T, Laub O, Leipold G, Gobbi C, Zecca C, Green A, Tumani H, Willemse E, Wiendl H, Granziera C, Kappos L, Leppert D, Waubant E, Wellmann S, Kuhle J. Abdelhak A, et al. Among authors: geis t. Lancet Neurol. 2023 Sep;22(9):826-833. doi: 10.1016/S1474-4422(23)00210-7. Epub 2023 Jul 28. Lancet Neurol. 2023. PMID: 37524100
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Proepper CR, Schuetz SM, Schwarz LM, Au KV, Bast T, Beaud N, Borggraefe I, Bosch F, Budde J, Busse M, Chung J, Debus O, Diepold K, Fries T, Gersdorff GV, Haeussler M, Hahn A, Hartlieb T, Heiming R, Herkenrath P, Kluger G, Kreth JH, Kurlemann G, Moeller P, Morris-Rosendahl DJ, Panzer A, Philippi H, Ruegner S, Toepfer C, Vieker S, Wiemer-Kruel A, Winter A, Schuierer G, Hehr U, Geis T. Proepper CR, et al. Among authors: geis t. Neuropediatrics. 2024 Dec;55(6):410-419. doi: 10.1055/s-0044-1789014. Epub 2024 Aug 30. Neuropediatrics. 2024. PMID: 39214127
Cerebrospinal fluid in Borna disease virus 1 (BoDV-1) encephalitis.
Neumann B, Hierl A, Wunderlich S, Meier H, Bauer C, Gerner ST, Rieder G, Geis T, Kunkel J, Bauswein M, Niller HH, Schmidt B, Rubbenstroth D, Beer M, Linker RA, Jantsch J, Angstwurm K. Neumann B, et al. Among authors: geis t. J Neurol Sci. 2023 Mar 15;446:120568. doi: 10.1016/j.jns.2023.120568. Epub 2023 Jan 25. J Neurol Sci. 2023. PMID: 36716549
39 results