Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Laura L. Klitten"'
Autor:
Lis Hasholt, Michael Tsoory, Anthony H. Futerman, Rikke S. Møller, Laura L. Klitten, Jan Larsen, Andrés D. Klein, Nils J. Færgeman, Jørgen E Nielsen, John Vissing, Helle Hjalgrim, Ditte Neess, Niels Tommerup, Anne Sofie Braun Olsen, Anne Sabers, Oshrit Ben-David, Mai-Britt Mosbech
Publikováno v:
Annals of Clinical and Translational Neurology
Mosbech, M-B, Olsen, A S B, Neess, D, Ben-David, O, Klitten, L L, Larsen, J, Sabers, A, Vissing, J, Nielsen, J E, Hasholt, L, Klein, A D, Tsoory, M M, Hjalgrim, H, Tommerup, N, Futerman, A H, Møller, R S & Færgeman, N J 2014, ' Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy ', Annals of Clinical and Translational Neurology, vol. 1, no. 2, pp. 88-98 . https://doi.org/10.1002/acn3.28
Mosbech, M-B, Olsen, A S B, Neess, D, Ben-David, O, Klitten, L L, Larsen, J, Sabers, A, Vissing, J, Nielsen, J E, Hasholt, L, Klein, A D, Tsoory, M M, Hjalgrim, H, Tommerup, N, Futerman, A H, Møller, R S & Færgeman, N J 2014, ' Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy ', Annals of Clinical and Translational Neurology, vol. 1, no. 2, pp. 88-98 . https://doi.org/10.1002/acn3.28
OBJECTIVE: Ceramides are precursors of complex sphingolipids (SLs), which are important for normal functioning of both the developing and mature brain. Altered SL levels have been associated with many neurodegenerative disorders, including epilepsy,
Autor:
Asli Silahtaroglu, Rikke S. Møller, Niels Tommerup, Helle Hjalgrim, Marina Nikanorova, Laura L. Klitten
Publikováno v:
Epilepsia. 52:e190-e193
Summary Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often difficult to treat. The underlying etiology of EMA is unknown in the majority of patients. Herein, we describe a patient with EM
Publikováno v:
Experimental Eye Research. 87:471-477
Levels of dopamine and melatonin exhibit diurnal rhythms in the rat retina. Dopamine is high during daytime adapting the retina to light, whereas melatonin is high during nighttime participating in the adaptation of the retina to low light intensitie
Autor:
Niels Tommerup, Kirsten B. Petersen, Laura L. Klitten, Louise K. Hoeffding, Thomas Werge, Johan H. Thygesen, L. Duong, Andres Ingason, Charlotte D. Knudsen
Publikováno v:
Duong, L T T, Hoeffding, L K, Petersen, K B, Knudsen, C B, Thygesen, J H, Klitten, L L, Tommerup, N, Ingason, A & Werge, T 2015, ' Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family ', European Journal of Medical Genetics, vol. 58, no. 12, pp. 650-653 . https://doi.org/10.1016/j.ejmg.2015.11.004
CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656c2b723b10bbe953076333d98ff38f
https://portal.findresearcher.sdu.dk/da/publications/c032d784-8b52-4de9-a330-f17cbbfb873d
https://portal.findresearcher.sdu.dk/da/publications/c032d784-8b52-4de9-a330-f17cbbfb873d
Autor:
Eva M. Reinthaler, Dennis Lal, Sebastien Lebon, Michael S. Hildebrand, Hans-Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, Jacques S. Beckmann, Thomas Sander, Sebastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Bernd Neubauer, Martina Mörzinger, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S Møller, Laura L. Klitten, Helle Hjalgrim, Kiel Campus, Ingo Helbig, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Ulrich Stephani, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß-Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Dieter Janz, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne Weber, Bobby P.C. Koeleman, Carolien de Kovel, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute, Jeanne de Flandre, Jean Marie Cuisset, Jean-Christophe Cuvellier, Roger Salengro, Albert David, Bert de Vries, Marie-Ange Delrue, Martine Doco-Fenzy, Bridget A. Fernandez, Delphine Heron, Boris Keren, Robert Lebel, Bruno Leheup, Suzanne Lewis, Maria Antonietta Mencarelli, Cyril Mignot, Jean-Claude Minet, Alexandre Moerman, Fanny Morice-Picard, Mafalda Mucciolo, Katrin Ounap, Laurent Pasquier, Florence Petit, Francesca Ragona, Evica Rajcan-Separovic, Alessandra Renieri, Claudine Rieubland, Damien Sanlaville, Elisabeth Sarrazin, Yiping Shen, Mieke van Haelst, Anneke Vulto-van Silfhout
Publikováno v:
16p11.2 European Consortium, EPICURE Consortium, The EuroEPINOMICS Consortium & Møller, R S 2014, ' 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy ', Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080 . https://doi.org/10.1093/hmg/ddu306
Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
Human molecular genetics, 23(22), 6069-6080. Oxford University Press
Human molecular genetics
Hum. Mol. Genet. 23, 6069-6080 (2014)
HUMAN MOLECULAR GENETICS
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; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Human Molecular Genetics, vol. 23, no. 22, pp. 6069-6080
Human molecular genetics, 23(22), 6069-6080. Oxford University Press
Human molecular genetics
Hum. Mol. Genet. 23, 6069-6080 (2014)
HUMAN MOLECULAR GENETICS
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; ... (2014). 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Human molecular genetics, 23(22), pp. 6069-6080. Oxford University Press 10.1093/hmg/ddu306
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::780d31edaa034478bbfc1c48d66221a6
http://hdl.handle.net/11365/975064
http://hdl.handle.net/11365/975064
Publikováno v:
Klitten, L L, Tommerup, N, Hjalgrim, H & Møller, R S 2009, ' 9q Subtelomeric deletion syndrome with diaphragmatic hernia ', American Journal of Medical Genetics. Part A, vol. 149A, no. 5, pp. 1086-1088 . https://doi.org/10.1002/ajmg.a.32823
Autor:
Helle Hjalgrim, Johanna A. Jähn, Dick Lindhout, Anna Baumgart, Marjan J. A. van Kempen, Ingo Helbig, Rikke S. Møller, Laura L. Klitten, Hiltrud Muhle, Rainer Boor, Ulrich Stephani, Nanda M. Verhoeven-Duif, Sarah von Spiczak
Publikováno v:
Baumgart, A, von Spiczak, S, Verhoeven-Duif, N M, Moller, R S, Boor, R, Muhle, H, Jahn, J A, Klitten, L L, Hjalgrim, H, Lindhout, D, Stephani, U, van Kempen, M J A & Helbig, I 2014, ' Atypical Vitamin B-6 Deficiency A Rare Cause of Unexplained Neonatal and Infantile Epilepsies ', Journal of Child Neurology, vol. 29, no. 5, pp. 704-707 . https://doi.org/10.1177/0883073813505354
ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B6metabolism causing perinatal seizure disorders. The phenotypic variability, however, is broad. To assess the frequency of these deficiencies in unexplained infantile epilepsy, we scree
Autor:
Gayle Patel, Jacques L. Michaud, Jacek Majewski, Mathilde Neugnot-Cerioli, Jeremy Schwartzentruber, Helle Hjalgrim, Mark A. Tarnopolsky, Fadi F. Hamdan, Lionel Carmant, Niels Tommerup, Laura L. Klitten, LaDonna Immken, Sylvain Palardy, Rikke S. Møller, Zhiyv Niu, Guy A. Rouleau, Céline Belhumeur, Sylvia Dobrzeniecka, Klaus Scheffzek, Jean-Claude Lacaille, Miriam H. Beauchamp, Lysanne Patry, Daniel Rochefort, Graziella Di Cristo, Christine M. Eng, Martin H. Berryer, Yaping Yang
Publikováno v:
Berryer, M H, Hamdan, F F, Klitten, L L, Møller, R S, Carmant, L, Schwartzentruber, J, Patry, L, Dobrzeniecka, S, Rochefort, D, Neugnot-Cerioli, M, Lacaille, J-C, Niu, Z, Eng, C M, Yang, Y, Palardy, S, Belhumeur, C, Rouleau, G A, Tommerup, N, Immken, L, Beauchamp, M H, Patel, G S, Majewski, J, Tarnopolsky, M A, Scheffzek, K, Hjalgrim, H, Michaud, J L & Di Cristo, G 2013, ' Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency ', Human Mutation, vol. 34, no. 2, pp. 385-394 . https://doi.org/10.1002/humu.22248
De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a801485fa6211879d42b4a72f3afed2
https://portal.findresearcher.sdu.dk/da/publications/8334075e-634f-47ad-8b17-00ec987ec757
https://portal.findresearcher.sdu.dk/da/publications/8334075e-634f-47ad-8b17-00ec987ec757
Autor:
Sarah von Spiczak, Nadia Boutry-Kryza, Philip Holmgren, Rik Hendrickx, Julitta de Bellescize, Deepak Gill, Kenou Van Rijckevorsel, Anna Jansen, Helle Hjalgrim, Sarah Weckhuysen, Arvid Suls, Ingo Helbig, Catherine Godfraind, Gaetan Lesca, Christian Korff, D. Hasaerts, Rikke S. Møller, Charlotte Dielman, Ingrid E. Scheffer, Peter De Jonghe, Simone C. Yendle, Laura L. Klitten
Publikováno v:
Epilepsia, Vol. 54, No 5 (2013) pp. e74-80
S, W, P, H, R, H, A, J, Møller, R S & Hjalgrim, H 2013, ' Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers ', Epilepsia, vol. 54, no. 5, pp. e74-e80 . https://doi.org/10.1111/epi.12124
Epilepsia
S, W, P, H, R, H, A, J, Møller, R S & Hjalgrim, H 2013, ' Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers ', Epilepsia, vol. 54, no. 5, pp. e74-e80 . https://doi.org/10.1111/epi.12124
Epilepsia
Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c085243c07b5e3107dad68e7c3244521
https://archive-ouverte.unige.ch/unige:34839
https://archive-ouverte.unige.ch/unige:34839
Autor:
Lars Hansen, Niels Tommerup, Maria Andersen, Mads Bak, Rikke S. Møller, Per Pfeiffer, Hans Eiberg, Yuan Mang, Linda P. Jakobsen, Laura L. Klitten
Publikováno v:
Jakobsen, L P, Pfeiffer, P, Andersen, M, Eiberg, H, Hansen, L, Mang, Y, Bak, M, Møller, R S, Klitten, L L & Tommerup, N 2012, ' Genetic studies in congenital anterior midline cervical cleft ', American Journal of Medical Genetics. Part A, vol. 158A, no. 8, pp. 2021-6 . https://doi.org/10.1002/ajmg.a.35466
Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57a0413a6bd5696d5b7e58b581de4894
https://portal.findresearcher.sdu.dk/da/publications/f61453db-6e34-4d8e-9259-3e67236ed5d7
https://portal.findresearcher.sdu.dk/da/publications/f61453db-6e34-4d8e-9259-3e67236ed5d7