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Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H. Balaraju S, et al. Among authors: pechmann a. Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527857 Free PMC article.
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K. Müller-Felber W, et al. Among authors: pechmann a. J Neuromuscul Dis. 2023;10(1):55-65. doi: 10.3233/JND-221577. J Neuromuscul Dis. 2023. PMID: 36463459 Free PMC article.
Letter to the editor: In reply to Sansone et al.
Langer T, Pechmann A, Wider S, Kirschner J. Langer T, et al. Among authors: pechmann a. Eur J Paediatr Neurol. 2018 Jul;22(4):732. doi: 10.1016/j.ejpn.2018.03.004. Epub 2018 Mar 29. Eur J Paediatr Neurol. 2018. PMID: 29628153 No abstract available.
Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Schorling DC, Becker J, Pechmann A, Langer T, Wirth B, Kirschner J. Schorling DC, et al. Among authors: pechmann a. Neurology. 2019 Aug 6;93(6):267-269. doi: 10.1212/WNL.0000000000007836. Epub 2019 Jun 24. Neurology. 2019. PMID: 31235659 No abstract available.
61 results