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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Sajan SA, Gradisch R, Vogel FD, Coffey AJ, Salyakina D, Soler D, Jayakar P, Jayakar A, Bianconi SE, Cooper AH, Liu S, William N, Benkel-Herrenbrück I, Maiwald R, Heller C, Biskup S, Leiz S, Westphal DS, Wagner M, Clarke A, Stockner T, Ernst M, Kesari A, Krenn M. Sajan SA, et al. Among authors: leiz s. Eur J Hum Genet. 2024 Apr 2. doi: 10.1038/s41431-024-01600-3. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38565639
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: leiz s. 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.
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: leiz s. 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.
Impaired Brain Growth in Myelin Oligodendrocyte Glycoprotein Antibody-Associated Acute Disseminated Encephalomyelitis.
Bartels F, Baumgartner B, Aigner A, Cooper G, Blaschek A, Wendel EM, Bertolini A, Karenfort M, Baumann M, Cleaveland R, Wegener-Panzer A, Leiz S, Salandin M, Krieg P, Reindl T, Reindl M, Finke C, Rostásy K. Bartels F, et al. Among authors: leiz s. Neurol Neuroimmunol Neuroinflamm. 2023 Feb 8;10(2):e200066. doi: 10.1212/NXI.0000000000200066. Print 2023 Mar. Neurol Neuroimmunol Neuroinflamm. 2023. PMID: 36754833 Free PMC article.
Temporal Dynamics of MOG Antibodies in Children With Acquired Demyelinating Syndrome.
Wendel EM, Thonke HS, Bertolini A, Baumann M, Blaschek A, Merkenschlager A, Karenfort M, Kornek B, Lechner C, Pohl D, Pritsch M, Schanda K, Schimmel M, Thiels C, Waltz S, Wiegand G, Anlar B, Barisic N, Blank C, Breu M, Broser P, Della Marina A, Diepold K, Eckenweiler M, Eisenkölbl A, Freilinger M, Gruber-Sedlmayr U, Hackenberg A, Iff T, Knierim E, Koch J, Kutschke G, Leiz S, Lischetzki G, Nosadini M, Pschibul A, Reiter-Fink E, Rohrbach D, Salandin M, Sartori S, Schlump JU, Stoffels J, Strautmanis J, Tibussek D, Tüngler V, Utzig N, Reindl M, Rostásy K; BIOMARKER Study Group. Wendel EM, et al. Among authors: leiz s. Neurol Neuroimmunol Neuroinflamm. 2022 Oct 13;9(6):e200035. doi: 10.1212/NXI.0000000000200035. Print 2022 Nov. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36229191 Free PMC article.
MR imaging in children with transverse myelitis and acquired demyelinating syndromes.
El Naggar I, Cleaveland R, Wendel EM, Bertolini A, Schanda K, Karenfort M, Thiels C, Della Marina A, Schimmel M, Leiz S, Lechner C, Baumann M, Reindl M, Wegener-Panzer A, Rostásy K; on-behalf-of-the-BIOMARKER-Study-Group. El Naggar I, et al. Among authors: leiz s. Mult Scler Relat Disord. 2022 Nov;67:104068. doi: 10.1016/j.msard.2022.104068. Epub 2022 Jul 22. Mult Scler Relat Disord. 2022. PMID: 35933757
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, Haelterman NA, Kanca O, Manivannan SN, Rossetti LZ, German RJ, Gerard A, Schwaibold EMC, Fehr S, Guerrini R, Vetro A, England E, Murali CN, Barakat TS, van Dooren MF, Wilke M, van Slegtenhorst M, Lesca G, Sabatier I, Chatron N, Brownstein CA, Madden JA, Agrawal PB, Keren B, Courtin T, Perrin L, Brugger M, Roser T, Leiz S, Mau-Them FT, Delanne J, Sukarova-Angelovska E, Trajkova S, Rosenhahn E, Strehlow V, Platzer K, Keller R, Pavinato L, Brusco A, Rosenfeld JA, Marom R, Wangler MF, Yamamoto S. Marcogliese PC, et al. Among authors: leiz s. Cell Rep. 2022 Mar 15;38(11):110517. doi: 10.1016/j.celrep.2022.110517. Cell Rep. 2022. PMID: 35294868 Free PMC article.
42 results