All Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (11)

Journal Article
Lesca, G.; Moizard, M. P.; Bussy, G.; Boggio, D.; Hu, H.; Haas, S. A.; Ropers, H. H.; Kalscheuer, V. M.; Des Portes, V.; Labalme, A. et al.; Sanlaville, D.; Edery, P.; Raynaud, M.; Lespinasse, J.: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A 161A (12), pp. 3063 - 3071 (2013)
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Zhang, Z.; Norris, J.; Kalscheuer, V.; Wood, T.; Wang, L.; Schwartz, C.; Alexov, E.; Van Esch, H.: A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics 22 (18), pp. 3789 - 3797 (2013)
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Wang, Y.; Gogol-Doring, A.; Hu, H.; Frohler, S.; Ma, Y.; Jens, M.; Maaskola, J.; Murakawa, Y.; Quedenau, C.; Landthaler, M. et al.; Kalscheuer, V.; Wieczorek, D.; Wang, Y.; Hu, Y.; Chen, W.: Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine 5 (9), pp. 1431 - 1442 (2013)
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Rademacher, N.; Kunde, S.-A.; Kalscheuer, V. M.; Shoichet, S. A.: Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand binding. Chemistry & Biology 20 (8), pp. 1044 - 1054 (2013)
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Van Maldergem, L.; Hou, Q.; Kalscheuer, V. M.; Rio, M.; Doco-Fenzy, M.; Medeira, A.; de Brouwer, A. P.; Cabrol, C.; Haas, S. A.; Cacciagli, P. et al.; Moutton, S.; Landais, E.; Motte, J.; Colleaux, L.; Bonnet, C.; Villard, L.; Dupont, J.; Man, H. Y.: Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Human Molecular Genetics 22 (16), pp. 3306 - 3314 (2013)
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Depienne, C.; Bugiani, M.; Dupuits, C.; Galanaud, D.; Touitou, V.; Postma, N.; van Berkel, C.; Polder, E.; Tollard, E.; Darios, F. et al.; Brice, A.; de Die-Smulders, C. E.; Vles, J. S.; Vanderver, A.; Uziel, G.; Yalcinkaya, C.; Frints, S. G.; Kalscheuer, V. M.; Klooster, J.; Kamermans, M.; Abbink, T. E.; Wolf, N. I.; Sedel, F.; van der Knaap, M. S.: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurology 12 (7), pp. 659 - 668 (2013)
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Isrie, M.; Kalscheuer, V. M.; Holvoet, M.; Fieremans, N.; Van Esch, H.; Devriendt, K.: HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. European Journal of Medical Genetics 56 (7), pp. 379 - 382 (2013)
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Haddad, D. M.; Vilain, S.; Vos, M.; Esposito, G.; Matta, S.; Kalscheuer, V. M.; Craessaerts, K.; Leyssen, M.; Nascimento, R. M.; Vianna-Morgante, A. M. et al.; De Strooper, B.; Van Esch, H.; Morais, V. A.; Verstreken, P.: Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Molecular Cell 50 (6), pp. 831 - 843 (2013)
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Hirata, H.; Nanda, I.; van Riesen, A.; McMichael, G.; Hu, H.; Hambrock, M.; Papon, M. A.; Fischer, U.; Marouillat, S.; Ding, C. et al.; Alirol, S.; Bienek, M.; Preisler-Adams, S.; Grimme, A.; Seelow, D.; Webster, R.; Haan, E.; MacLennan, A.; Stenzel, W.; Yap, T. Y.; Gardner, A.; Nguyen, L. S.; Shaw, M.; Lebrun, N.; Haas, S. A.; Kress, W.; Haaf, T.; Schellenberger, E.; Chelly, J.; Viot, G.; Shaffer, L. G.; Rosenfeld, J. A.; Kramer, N.; Falk, R.; El-Khechen, D.; Escobar, L. F.; Hennekam, R.; Wieacker, P.; Hubner, C.; Ropers, H. H.; Gecz, J.; Schuelke, M.; Laumonnier, F.; Kalscheuer, V. M.: ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. The American Journal of Human Genetics 92 (5), pp. 681 - 695 (2013)
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Gilling, M.; Rasmussen, H. B.; Calloe, K.; Sequeira, A. F.; Baretto, M.; Oliveira, G.; Almeida, J.; Lauritsen, M. B.; Ullmann, R.; Boonen, S. E. et al.; Brondum-Nielsen, K.; Kalscheuer, V. M.; Tumer, Z.; Vicente, A. M.; Schmitt, N.; Tommerup, N.: Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Frontiers in Genetics 4, p. 4:54 - 4:54 (2013)
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Kunde, S.-A.; Rademacher, N.; Tzschach, A.; Wiedersberg, E.; Ullmann, R.; Kalscheuer, V. M.; Shoichet, S. A.: Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. Human Genetics 132 (4), pp. 461 - 471 (2013)
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