Publikationen von V. M. Kalscheuer

Philips, A. K.; Siren, A.; Avela, K.; Somer, M.; Peippo, M.; Ahvenainen, M.; Doagu, F.; Arvio, M.; Kaariainen, H.; Van Esch, H. et al.; Froyen, G.; Haas, S. A.; Hu, H.; Kalscheuer, V. M.; Jarvela, I.: X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet Journal of Rare Diseases 9, 9:49 (2014)

de Brouwer, A. P.; Nabuurs, S. B.; Verhaart, I. E.; Oudakker, A. R.; Hordijk, R.; Yntema, H. G.; Hordijk-Hos, J. M.; Voesenek, K.; de Vries, B. B.; van Essen, T. et al.; Chen, W.; Hu, H.; Chelly, J.; den Dunnen, J. T.; Kalscheuer, V. M.; Aartsma-Rus, A. M.; Hamel, B. C.; van Bokhoven, H.; Kleefstra, T.: A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics 22 (4), S. 480 - 485 (2014)

Belet, S.; Fieremans, N.; Yuan, X.; Van Esch, H.; Verbeeck, J.; Ye, Z.; Cheng, L.; Brodsky, B. R.; Hu, H.; Kalscheuer, V. M. et al.; Brodsky, R. A.; Froyen, G.: Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Human Mutation 35 (3), S. 350 - 355 (2014)

Masurel-Paulet, A.; Kalscheuer, V. M.; Lebrun, N.; Hu, H.; Levy, F.; Thauvin-Robinet, C.; Darmency-Stamboul, V.; El Chehadeh, S.; Thevenon, J.; Chancenotte, S. et al.; Ruffier-Bourdet, M.; Bonnet, M.; Pinoit, J. M.; Huet, F.; Desportes, V.; Chelly, J.; Faivre, L.: Expanding the clinical phenotype of patients with a ZDHHC9 mutation. American Journal of Medical Genetics Part A 164A (3), S. 789 - 795 (2014)

Arvio, M.; Philips, A. K.; Ahvenainen, M.; Somer, M.; Kalscheuer, V.; Järvelä, I.: [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. Duodecim; lääketieteellinen aikakauskirja 130 (21), S. 2202 - 2205 (2014)

Dreha-Kulaczewski, S.; Kalscheuer, V.; Tzschach, A.; Hu, H.; Helms, G.; Brockmann, K.; Weddige, A.; Dechent, P.; Schluter, G.; Kratzner, R. et al.; Ropers, H. H.; Gartner, J.; Zirn, B.: A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. JIMD Reports 13, S. 91 - 99 (2014)

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), S. 3063 - 3071 (2013)

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), S. 3789 - 3797 (2013)

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), S. 1431 - 1442 (2013)

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), S. 1044 - 1054 (2013)

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), S. 3306 - 3314 (2013)

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), S. 659 - 668 (2013)

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), S. 379 - 382 (2013)

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), S. 831 - 843 (2013)

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), S. 681 - 695 (2013)

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, S. 4:54 - 4:54 (2013)

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), S. 461 - 471 (2013)

Huang, L.; Jolly, L. A.; Willis-Owen, S.; Gardner, A.; Kumar, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M. et al.; Hackett, A.; Field, M.; Froyen, G.; Hu, H. C.; Haas, S.; Ropers, H.-H.; Kalscheuer, V. M.; Corbett, M. A.; Gecz, J.: A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 91 (4), S. 694 - 702 (2012)

Zanni, G.; Cali, T.; Kalscheuer, V. M.; Ottolini, D.; Barresi, S.; Lebrun, N.; Montecchi-Palazzi, L.; Hu, H.; Chelly, J.; Bertini, E. et al.; Brini, M.; Carafoli, E.: Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 109 (36), S. 14514 - 14519 (2012)

Ricciardi, S.; Ungaro, F.; Hambrock, M.; Rademacher, N.; Stefanelli, G.; Brambilla, D.; Sessa, A.; Magagnotti, C.; Bachi, A.; Giarda, E. et al.; Verpelli, C.; Kilstrup-Nielsen, C.; Sala, C.; Kalscheuer, V. M.; Broccoli, V.: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology 14 (9), S. 911 - 923 (2012)