[{"page":"394 - 397","quality_controlled":0,"citation":{"ama":"Novarino G, El Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012;338(6105):394-397. doi:10.1126/science.1224631","ieee":"G. Novarino et al., “Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy,” Science, vol. 338, no. 6105. American Association for the Advancement of Science, pp. 394–397, 2012.","apa":"Novarino, G., El Fishawy, P., Kayserili, H., Meguid, N., Scott, E., Schroth, J., … Gleeson, J. (2012). Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. American Association for the Advancement of Science. https://doi.org/10.1126/science.1224631","ista":"Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.","short":"G. Novarino, P. El Fishawy, H. Kayserili, N. Meguid, E. Scott, J. Schroth, J. Silhavy, M. Kara, R. Khalil, T. Ben Omran, A. Ercan Sencicek, A. Hashish, S. Sanders, A. Gupta, H. Hashem, D. Matern, S. Gabriel, L. Sweetman, Y. Rahimi, R. Harris, M. State, J. Gleeson, Science 338 (2012) 394–397.","mla":"Novarino, Gaia, et al. “Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.” Science, vol. 338, no. 6105, American Association for the Advancement of Science, 2012, pp. 394–97, doi:10.1126/science.1224631.","chicago":"Novarino, Gaia, Paul El Fishawy, Hülya Kayserili, Nagwa Meguid, Eric Scott, Jana Schroth, Jennifer Silhavy, et al. “Mutations in BCKD-Kinase Lead to a Potentially Treatable Form of Autism with Epilepsy.” Science. American Association for the Advancement of Science, 2012. https://doi.org/10.1126/science.1224631."},"publication":"Science","doi":"10.1126/science.1224631","date_published":"2012-10-19T00:00:00Z","day":"19","month":"10","intvolume":" 338","publisher":"American Association for the Advancement of Science","status":"public","publication_status":"published","title":"Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy","year":"2012","_id":"2314","volume":338,"date_created":"2018-12-11T11:56:56Z","date_updated":"2021-01-12T06:56:43Z","author":[{"last_name":"Novarino","first_name":"Gaia","orcid":"0000-0002-7673-7178","id":"3E57A680-F248-11E8-B48F-1D18A9856A87","full_name":"Gaia Novarino"},{"full_name":"El-Fishawy, Paul","first_name":"Paul","last_name":"El Fishawy"},{"first_name":"Hülya","last_name":"Kayserili","full_name":"Kayserili, Hülya"},{"full_name":"Meguid, Nagwa A","last_name":"Meguid","first_name":"Nagwa"},{"full_name":"Scott, Eric M","first_name":"Eric","last_name":"Scott"},{"last_name":"Schroth","first_name":"Jana","full_name":"Schroth, Jana"},{"full_name":"Silhavy, Jennifer L","first_name":"Jennifer","last_name":"Silhavy"},{"full_name":"Kara, Majdi","first_name":"Majdi","last_name":"Kara"},{"full_name":"Khalil, Rehab O","last_name":"Khalil","first_name":"Rehab"},{"last_name":"Ben Omran","first_name":"Tawfeg","full_name":"Ben-Omran, Tawfeg I"},{"last_name":"Ercan Sencicek","first_name":"Adife","full_name":"Ercan-Sencicek, Adife G"},{"full_name":"Hashish, Adel F","first_name":"Adel","last_name":"Hashish"},{"first_name":"Stephan","last_name":"Sanders","full_name":"Sanders, Stephan J"},{"last_name":"Gupta","first_name":"Abha","full_name":"Gupta, Abha R"},{"full_name":"Hashem, Hebatalla S","last_name":"Hashem","first_name":"Hebatalla"},{"full_name":"Matern, Dietrich","first_name":"Dietrich","last_name":"Matern"},{"full_name":"Gabriel, Stacey B","first_name":"Stacey","last_name":"Gabriel"},{"first_name":"Lawrence","last_name":"Sweetman","full_name":"Sweetman, Lawrence"},{"first_name":"Yasmeen","last_name":"Rahimi","full_name":"Rahimi, Yasmeen"},{"full_name":"Harris, Robert A","first_name":"Robert","last_name":"Harris"},{"full_name":"State, Matthew W","first_name":"Matthew","last_name":"State"},{"first_name":"Joseph","last_name":"Gleeson","full_name":"Gleeson, Joseph G"}],"type":"journal_article","extern":1,"issue":"6105","publist_id":"4613","abstract":[{"text":"Autism spectrum disorders are a genetically heterogeneous constellation of syndromes characterized by impairments in reciprocal social interaction. Available somatic treatments have limited efficacy. We have identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability. The encoded protein is responsible for phosphorylation-mediated inactivation of the E1α subunit of branched-chain ketoacid dehydrogenase (BCKDH). Patients with homozygous BCKDK mutations display reductions in BCKDK messenger RNA and protein, E1α phosphorylation, and plasma branched-chain amino acids. Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation. Thus, autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome.","lang":"eng"}]},{"type":"journal_article","abstract":[{"text":"We show that bosons interacting via pair potentials with negative scattering length form bound states for a suitable number of particles. In other words, the absence of many-particle bound states of any kind implies the non-negativity of the scattering length of the interaction potential. ","lang":"eng"}],"issue":"3","publist_id":"4609","_id":"2318","user_id":"3E5EF7F0-F248-11E8-B48F-1D18A9856A87","acknowledgement":"Partial financial support by NSERC ","year":"2012","title":"Absence of bound states implies non-negativity of the scattering length","status":"public","publication_status":"published","intvolume":" 2","publisher":"European Mathematical Society","department":[{"_id":"RoSe"}],"author":[{"full_name":"Seiringer, Robert","first_name":"Robert","last_name":"Seiringer","id":"4AFD0470-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0002-6781-0521"}],"date_created":"2018-12-11T11:56:58Z","date_updated":"2021-01-12T06:56:44Z","oa_version":"Preprint","volume":2,"day":"24","month":"06","publication":"Journal of Spectral Theory","oa":1,"citation":{"ista":"Seiringer R. 2012. Absence of bound states implies non-negativity of the scattering length. Journal of Spectral Theory. 2(3), 321–328.","apa":"Seiringer, R. (2012). Absence of bound states implies non-negativity of the scattering length. Journal of Spectral Theory. European Mathematical Society. https://doi.org/10.4171/JST/31","ieee":"R. Seiringer, “Absence of bound states implies non-negativity of the scattering length,” Journal of Spectral Theory, vol. 2, no. 3. European Mathematical Society, pp. 321–328, 2012.","ama":"Seiringer R. Absence of bound states implies non-negativity of the scattering length. Journal of Spectral Theory. 2012;2(3):321-328. doi:10.4171/JST/31","chicago":"Seiringer, Robert. “Absence of Bound States Implies Non-Negativity of the Scattering Length.” Journal of Spectral Theory. European Mathematical Society, 2012. https://doi.org/10.4171/JST/31.","mla":"Seiringer, Robert. “Absence of Bound States Implies Non-Negativity of the Scattering Length.” Journal of Spectral Theory, vol. 2, no. 3, European Mathematical Society, 2012, pp. 321–28, doi:10.4171/JST/31.","short":"R. Seiringer, Journal of Spectral Theory 2 (2012) 321–328."},"main_file_link":[{"url":"http://arxiv.org/abs/1204.0435","open_access":"1"}],"quality_controlled":"1","page":"321-328","date_published":"2012-06-24T00:00:00Z","doi":"10.4171/JST/31","language":[{"iso":"eng"}]},{"date_created":"2018-12-11T11:56:57Z","date_updated":"2021-01-12T06:56:44Z","author":[{"last_name":"Frank","first_name":"Rupert","full_name":"Frank, Rupert L"},{"full_name":"Hainzl, Christian","first_name":"Christian","last_name":"Hainzl"},{"first_name":"Robert","last_name":"Seiringer","id":"4AFD0470-F248-11E8-B48F-1D18A9856A87","orcid":"0000-0002-6781-0521","full_name":"Robert Seiringer"},{"full_name":"Solovej, Jan P","last_name":"Solovej","first_name":"Jan"}],"publication_status":"published","title":"Microscopic derivation of the Ginzburg-Landau model","status":"public","publisher":"World Scientific Publishing","year":"2012","_id":"2317","extern":1,"abstract":[{"lang":"eng","text":"We present a summary of our recent rigorous derivation of the celebrated Ginzburg-Landau (GL) theory, starting from the microscopic Bardeen-Cooper-Schrieffer (BCS) model. Close to the critical temperature, GL arises as an effective theory on the macroscopic scale. The relevant scaling limit is semiclassical in nature, and semiclassical analysis, with minimal regularity assumptions, plays an important part in our proof. "}],"publist_id":"4610","type":"conference","conference":{"name":"ICMP: International Congress on Mathematical Physics"},"doi":"10.1142/9789814449243_0060","date_published":"2012-08-01T00:00:00Z","quality_controlled":0,"page":"575 - 583","citation":{"chicago":"Frank, Rupert, Christian Hainzl, Robert Seiringer, and Jan Solovej. “Microscopic Derivation of the Ginzburg-Landau Model,” 575–83. World Scientific Publishing, 2012. https://doi.org/10.1142/9789814449243_0060.","mla":"Frank, Rupert, et al. Microscopic Derivation of the Ginzburg-Landau Model. World Scientific Publishing, 2012, pp. 575–83, doi:10.1142/9789814449243_0060.","short":"R. Frank, C. Hainzl, R. Seiringer, J. Solovej, in:, World Scientific Publishing, 2012, pp. 575–583.","ista":"Frank R, Hainzl C, Seiringer R, Solovej J. 2012. Microscopic derivation of the Ginzburg-Landau model. ICMP: International Congress on Mathematical Physics, 575–583.","ieee":"R. Frank, C. Hainzl, R. Seiringer, and J. Solovej, “Microscopic derivation of the Ginzburg-Landau model,” presented at the ICMP: International Congress on Mathematical Physics, 2012, pp. 575–583.","apa":"Frank, R., Hainzl, C., Seiringer, R., & Solovej, J. (2012). Microscopic derivation of the Ginzburg-Landau model (pp. 575–583). Presented at the ICMP: International Congress on Mathematical Physics, World Scientific Publishing. https://doi.org/10.1142/9789814449243_0060","ama":"Frank R, Hainzl C, Seiringer R, Solovej J. Microscopic derivation of the Ginzburg-Landau model. In: World Scientific Publishing; 2012:575-583. doi:10.1142/9789814449243_0060"},"main_file_link":[{"open_access":"1","url":"http://arxiv.org/abs/1209.1080"}],"oa":1,"day":"01","month":"08"},{"day":"01","month":"08","quality_controlled":0,"page":"477 - 485","oa":1,"main_file_link":[{"open_access":"1","url":"http://arxiv.org/abs/1209.3717"}],"citation":{"short":"R. Frank, É. Lieb, R. Seiringer, L. Thomas, in:, World Scientific Publishing, 2012, pp. 477–485.","mla":"Frank, Rupert, et al. Ground State Properties of Multi-Polaron Systems. World Scientific Publishing, 2012, pp. 477–85, doi:10.1142/9789814449243_0045.","chicago":"Frank, Rupert, Élliott Lieb, Robert Seiringer, and Lawrence Thomas. “Ground State Properties of Multi-Polaron Systems,” 477–85. World Scientific Publishing, 2012. https://doi.org/10.1142/9789814449243_0045.","ama":"Frank R, Lieb É, Seiringer R, Thomas L. Ground state properties of multi-polaron systems. In: World Scientific Publishing; 2012:477-485. doi:10.1142/9789814449243_0045","apa":"Frank, R., Lieb, É., Seiringer, R., & Thomas, L. (2012). Ground state properties of multi-polaron systems (pp. 477–485). Presented at the ICMP: International Congress on Mathematical Physics, World Scientific Publishing. https://doi.org/10.1142/9789814449243_0045","ieee":"R. Frank, É. Lieb, R. Seiringer, and L. Thomas, “Ground state properties of multi-polaron systems,” presented at the ICMP: International Congress on Mathematical Physics, 2012, pp. 477–485.","ista":"Frank R, Lieb É, Seiringer R, Thomas L. 2012. Ground state properties of multi-polaron systems. ICMP: International Congress on Mathematical Physics, 477–485."},"conference":{"name":"ICMP: International Congress on Mathematical Physics"},"doi":"10.1142/9789814449243_0045","date_published":"2012-08-01T00:00:00Z","type":"conference","extern":1,"abstract":[{"lang":"eng","text":"We summarize our recent results on the ground state energy of multi-polaron systems. In particular, we discuss stability and existence of the thermodynamic limit, and we discuss the absence of binding in the case of large Coulomb repulsion and the corresponding binding-unbinding transition. We also consider the Pekar-Tomasevich approximation to the ground state energy and we study radial symmetry of the ground state density. "}],"publist_id":"4611","title":"Ground state properties of multi-polaron systems","publication_status":"published","status":"public","publisher":"World Scientific Publishing","_id":"2316","year":"2012","date_updated":"2021-01-12T06:56:44Z","date_created":"2018-12-11T11:56:57Z","author":[{"first_name":"Rupert","last_name":"Frank","full_name":"Frank, Rupert L"},{"full_name":"Lieb, Élliott H","last_name":"Lieb","first_name":"Élliott"},{"last_name":"Seiringer","first_name":"Robert","orcid":"0000-0002-6781-0521","id":"4AFD0470-F248-11E8-B48F-1D18A9856A87","full_name":"Robert Seiringer"},{"full_name":"Thomas, Lawrence E","last_name":"Thomas","first_name":"Lawrence"}]},{"doi":"10.4007/annals.2012.175.1.8","date_published":"2012-01-01T00:00:00Z","quality_controlled":0,"page":"297 - 343","publication":"Annals of Mathematics","citation":{"ama":"De La Bretèche R, Browning TD, Peyre E. On Manin’s conjecture for a family of Châtelet surfaces. Annals of Mathematics. 2012;175(1):297-343. doi:10.4007/annals.2012.175.1.8","ista":"De La Bretèche R, Browning TD, Peyre E. 2012. On Manin’s conjecture for a family of Châtelet surfaces. Annals of Mathematics. 175(1), 297–343.","ieee":"R. De La Bretèche, T. D. Browning, and E. Peyre, “On Manin’s conjecture for a family of Châtelet surfaces,” Annals of Mathematics, vol. 175, no. 1. Princeton University Press, pp. 297–343, 2012.","apa":"De La Bretèche, R., Browning, T. D., & Peyre, E. (2012). On Manin’s conjecture for a family of Châtelet surfaces. Annals of Mathematics. Princeton University Press. https://doi.org/10.4007/annals.2012.175.1.8","mla":"De La Bretèche, Régis, et al. “On Manin’s Conjecture for a Family of Châtelet Surfaces.” Annals of Mathematics, vol. 175, no. 1, Princeton University Press, 2012, pp. 297–343, doi:10.4007/annals.2012.175.1.8.","short":"R. De La Bretèche, T.D. Browning, E. Peyre, Annals of Mathematics 175 (2012) 297–343.","chicago":"De La Bretèche, Régis, Timothy D Browning, and Emmanuel Peyre. “On Manin’s Conjecture for a Family of Châtelet Surfaces.” Annals of Mathematics. Princeton University Press, 2012. https://doi.org/10.4007/annals.2012.175.1.8."},"month":"01","day":"01","date_created":"2018-12-11T11:45:22Z","date_updated":"2021-01-12T06:57:04Z","volume":175,"author":[{"full_name":"de la Bretèche, Régis","first_name":"Régis","last_name":"De La Bretèche"},{"orcid":"0000-0002-8314-0177","id":"35827D50-F248-11E8-B48F-1D18A9856A87","last_name":"Browning","first_name":"Timothy D","full_name":"Timothy Browning"},{"full_name":"Peyre, Emmanuel","last_name":"Peyre","first_name":"Emmanuel"}],"title":"On Manin's conjecture for a family of Châtelet surfaces","status":"public","publication_status":"published","intvolume":" 175","publisher":"Princeton University Press","acknowledgement":"EP/E053262/1\tEngineering and Physical Sciences Research Council","_id":"237","year":"2012","extern":1,"abstract":[{"lang":"eng","text":"The Manin conjecture is established for Châtelet surfaces over Q aris-ing as minimal proper smooth models of the surface Y 2 + Z 2 = f(X) in A 3 Q, where f ∈ Z[X] is a totally reducible polynomial of degree 3 without repeated roots. These surfaces do not satisfy weak approximation."}],"issue":"1","publist_id":"7667","type":"journal_article"}]