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CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.
Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala JN, Morales-Jeanhs EA, García-Ortiz JE, León-Gil A, Rivera H, Domínguez MG, Kalscheuer VM. Córdova-Fletes C, et al. Among authors: kalscheuer vm. Clin Genet. 2010 Jan;77(1):92-6. doi: 10.1111/j.1399-0004.2009.01286.x. Epub 2009 Oct 5. Clin Genet. 2010. PMID: 19807736 No abstract available.
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Tzschach A, Bisgaard AM, Kirchhoff M, Graul-Neumann LM, Neitzel H, Page S, Ahmed A, Müller I, Erdogan F, Ropers HH, Kalscheuer VM, Ullmann R. Tzschach A, et al. Among authors: kalscheuer vm. Eur J Hum Genet. 2010 Mar;18(3):291-5. doi: 10.1038/ejhg.2009.163. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844253 Free PMC article.
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.
Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM. Rademacher N, et al. Among authors: kalscheuer vm. Neurogenetics. 2011 May;12(2):165-7. doi: 10.1007/s10048-011-0277-6. Epub 2011 Feb 12. Neurogenetics. 2011. PMID: 21318334 No abstract available.
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.
Ricciardi S, Ungaro F, Hambrock M, Rademacher N, Stefanelli G, Brambilla D, Sessa A, Magagnotti C, Bachi A, Giarda E, Verpelli C, Kilstrup-Nielsen C, Sala C, Kalscheuer VM, Broccoli V. Ricciardi S, et al. Among authors: kalscheuer vm. Nat Cell Biol. 2012 Sep;14(9):911-23. doi: 10.1038/ncb2566. Epub 2012 Aug 26. Nat Cell Biol. 2012. PMID: 22922712 Free PMC article.
193 results