Publications by authors named "Auli Siren"

14Publications

Cognition in adults with Williams syndrome-A 20-year follow-up study.

Mol Genet Genomic Med 2019 06 29;7(6):e695. Epub 2019 Apr 29.

KTO-Special Welfare District of Varsinais-Suomi, Paimio, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.695DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565587PMC
June 2019

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Signs indicating dementia in Down, Williams and Fragile X syndromes.

Mol Genet Genomic Med 2018 09 3;6(5):855-860. Epub 2018 Jul 3.

KTO-Special Welfare District of Varsinais-Suomi, Paimio, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160716PMC
September 2018

A new locus for familial temporal lobe epilepsy on chromosome 3q.

Epilepsy Res 2013 Oct 14;106(3):338-44. Epub 2013 Aug 14.

Department of Neurology, ULB-Hôpital Erasme, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2013.07.007DOI Listing
October 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
Publisher Site
http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Evaluation of CACNA1H in European patients with childhood absence epilepsy.

Epilepsy Res 2006 May 28;69(2):177-81. Epub 2006 Feb 28.

Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2006.01.009DOI Listing
May 2006

Idiopathic generalised epilepsies with 3 Hz and faster spike wave discharges: a population-based study with evaluation and long-term follow-up in 71 patients.

Epileptic Disord 2002 Sep;4(3):209-16

Department of Paediatrics, Tampere University Hospital, Finland.

View Article

Download full-text PDF

Source
September 2002

Myoclonic status epilepticus: video presentation.

Mov Disord 2002 Mar;17(2):409-11

Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.10079DOI Listing
March 2002