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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS. Hallmann K, et al. Among authors: kirschner j. Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31. Neurology. 2014. PMID: 25361775
'Why do children with cerebral palsy discontinue therapy with botulinum toxin A?'.
Linder-Lucht M, Kirschner J, Herrmann J, Geth K, Korinthenberg R, Berweck S, Heinen F, Mall V. Linder-Lucht M, et al. Among authors: kirschner j. Dev Med Child Neurol. 2006 Apr;48(4):319-20. doi: 10.1017/S0012162206000697. Dev Med Child Neurol. 2006. PMID: 16542523 Free article. No abstract available.
503 results