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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Reinthaler, Eva M. ; Lal, Dennis ; Lebon, Sebastien ; Hildebrand, Michael S. ; Dahl, Hans-Henrik M. ; Regan, Brigid M. ; Feucht, Martha ; Steinböck, Hannelore ; Neophytou, Birgit ; Ronen, Gabriel M. ; Roche, Laurian ; Gruber-Sedlmayr, Ursula ; Geldner, Julia ; Haberlandt, Edda ; Hoffmann, Per ; Herms, Stefan ; Gieger, Christian ; Waldenberger, Melanie ; Franke, Andre ; Wittig, Michael ; Schoch, Susanne ; Becker, Albert J. ; Hahn, Andreas ; Männik, Katrin ; Toliat, Mohammad R. ; Winterer, Georg ; Lerche, Holger ; Nürnberg, Peter ; Mefford, Heather ; Scheffer, Ingrid E. ; Berkovic, Samuel F. ; Beckmann, Jacques S. ; Sander, Thomas ; Jacquemont, Sebastien ; Reymond, Alexandre ; Zimprich, Fritz ; Neubauer, Bernd A. ; Reinthaler, Eva M. ; Zimprich, Fritz ; Feucht, Martha ; Steinböck, Hannelore ; Neophytou, Birgit ; Geldner, Julia ; Gruber-Sedlmayr, Ursula ; Haberlandt, Edda ; Ronen, Gabriel M. ; Roche, Laurian ; Lal, Dennis ; Nürnberg, Peter ; Sander, Thomas ; Lerche, Holger ; Neubauer, Bernd ; Mörzinger, Martina ; Suls, Arvid ; Weckhuysen, Sarah ; Claes, Lieve ; Deprez, Liesbet ; Smets, Katrien ; Van Dyck, Tine ; Deconinck, Tine ; De Jonghe, Peter ; Møller, Rikke S. ; Klitten, Laura L. ; Hjalgrim, Helle ; Campus, Kiel ; Helbig, Ingo ; Muhle, Hiltrud ; Ostertag, Philipp ; von Spiczak, Sarah ; Stephani, Ulrich ; Trucks, Holger ; Elger, Christian E. ; Kleefuß-Lie, Ailing A. ; Kunz, Wolfram S. ; Surges, Rainer ; Gaus, Verena ; Janz, Dieter ; Schmitz, Bettina ; Rosenow, Felix ; Klein, Karl Martin ; Reif, Philipp S. ; Oertel, Wolfgang H. ; Hamer, Hajo M. ; Becker, Felicitas ; Weber, Yvonne ; Koeleman, Bobby P.C. ; de Kovel, Carolien ; Lindhout, Dick ; Ameil, Agnès ; Andrieux, Joris ; Bouquillon, Sonia ; Boute, Odile ; de Flandre, Jeanne ; Cuisset, Jean Marie ; Cuvellier, Jean-Christophe ; Salengro, Roger ; David, Albert ; de Vries, Bert ; Delrue, Marie-Ange ; Doco-Fenzy, Martine ; Fernandez, Bridget A. ; Heron, Delphine ; Keren, Boris ; Lebel, Robert ; Leheup, Bruno ; Lewis, Suzanne ; Mencarelli, Maria Antonietta ; Mignot, Cyril ; Minet, Jean-Claude ; Moerman, Alexandre ; Morice-Picard, Fanny ; Mucciolo, Mafalda ; Ounap, Katrin ; Pasquier, Laurent ; Petit, Florence ; Ragona, Francesca ; Rajcan-Separovic, Evica ; Renieri, Alessandra ; Rieubland, Claudine ; Sanlaville, Damien ; Sarrazin, Elisabeth ; Shen, Yiping ; van Haelst, Mieke ; Silfhout, Anneke Vulto-van

In: Human Molecular Genetics, 2014, vol. 23, no. 22, p. 6069-6080

Université de Fribourg

17-β estradiol increases parvalbumin levels in Pvalb heterozygous mice and attenuates behavioral phenotypes with relevance to autism core symptoms

Filice, Federica ; Lauber, Emanuel ; Vörckel, Karl Jakob ; Wöhr, Markus ; Schwaller, Beat

In: Molecular Autism, 2018, vol. 9, p. 15

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by two core symptoms: impaired social interaction and communication, and restricted, repetitive behaviors and interests. The pathophysiology of ASD is not yet fully understood, due to a plethora of genetic and environmental risk factors that might be associated with or causal for ASD. Recent findings...

Université de Fribourg

¹⁸²Tungsten Mössbauer spectroscopy of heteropolytungstates

Bochet, Christian G. ; Draper, Thérèse ; Bocquet, Bernard ; Pope, Michael T. ; Williams, Alan F.

In: Dalton Transaction, 2009, vol. 26, p. 5127-5131

The tungsten-182 Mössbauer spectra of a series of Keggin structure heteropolytungstates, [EW₁₂O₄₀]ⁿ⁻ are reported. There is a very considerable variation in quadrupole coupling at the tungsten nucleus indicating considerable asymmetry in the electron distribution for the more electronegative elements E. The quadrupole coupling correlates well with the structural data, in...