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Page 1
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: kern j. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Traschütz A, Schirinzi T, Laugwitz L, Murray NH, Bingman CA, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Basak AN, Hanagasi H, Kurul SH, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli FM, Anheim M, Munhoz RP, Haack T, Distelmaier F, Pagliarini DJ, Puccio H, Synofzik M. Traschütz A, et al. Among authors: kern j. Ann Neurol. 2020 Aug;88(2):251-263. doi: 10.1002/ana.25751. Epub 2020 Jun 10. Ann Neurol. 2020. PMID: 32337771 Free PMC article.
CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.
Syrbe S, Stettner GM, Bally J, Borggraefe I, Bien CI, Ferfoglia RI, Huppke P, Kern J, Polster T, Probst-Müller E, Schmid S, Steinfeld R, Strozzi S, Weichselbaum A, Weitz M, Ziegler A, Wandinger KP, Leypoldt F, Bien CG. Syrbe S, et al. Among authors: kern j. Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18. Neurology. 2020. PMID: 32424051
Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis.
Quack L, Glatter S, Wegener-Panzer A, Cleaveland R, Bertolini A, Endmayr V, Seidl R, Breu M, Wendel E, Schimmel M, Baumann M, Rauchenzauner M, Pritsch M, Boy N, Muralter T, Kluger G, Makoswski C, Kraus V, Leiz S, Loehr-Nilles C, Kreth JH, Braig S, Schilling S, Kern J, Blank C, Tro Baumann B, Vieth S, Wallot M, Reindl M, Ringl H, Wandinger KP, Leypoldt F, Höftberger R, Rostásy K. Quack L, et al. Among authors: kern j. Eur J Paediatr Neurol. 2023 Nov;47:118-130. doi: 10.1016/j.ejpn.2023.10.005. Epub 2023 Oct 20. Eur J Paediatr Neurol. 2023. PMID: 38284996 Free article.
Corrigendum to "Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis" [Eur. J. Paediatr. Neurol. 47 (2023) 118-130].
Quack L, Glatter S, Wegener-Panzer A, Cleaveland R, Bertolini A, Endmayr V, Seidl R, Breu M, Wendel E, Schimmel M, Baumann M, Rauchenzauner M, Pritsch M, Boy N, Muralter T, Kluger G, Makoswski C, Kraus V, Leiz S, Loehr-Nilles C, Kreth JH, Braig S, Schilling S, Kern J, Blank C, Tro Baumann B, Vieth S, Wallot M, Reindl M, Ringl H, Wandinger KP, Leypoldt F, Höftberger R, Rostásy K. Quack L, et al. Among authors: kern j. Eur J Paediatr Neurol. 2024 Apr 30:S1090-3798(24)00056-4. doi: 10.1016/j.ejpn.2024.04.010. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38692980 No abstract available.
Resection extent and BRAF V600E mutation status determine postoperative tumor growth velocity in pediatric low-grade glioma: results from a single-center cohort analysis.
Gorodezki D, Zipfel J, Queudeville M, Sosa J, Holzer U, Kern J, Bevot A, Schittenhelm J, Nägele T, Ebinger M, Schuhmann MU. Gorodezki D, et al. Among authors: kern j. J Neurooncol. 2022 Dec;160(3):567-576. doi: 10.1007/s11060-022-04176-4. Epub 2022 Nov 1. J Neurooncol. 2022. PMID: 36319795 Free PMC article.
1,438 results