Publications by authors named "Raffaella Rusconi"

22Publications

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

Long-lasting pathological consequences of overexpression-induced α-synuclein spreading in the rat brain.

Aging Cell 2018 04 30;17(2). Epub 2018 Jan 30.

German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/acel.12727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847868PMC
April 2018

Early left atrial tissue features in patients with chronic mitral regurgitation and sinus rhythm: Alterations of not remodeled left atria.

Int J Cardiol 2016 Sep 15;219:433-8. Epub 2016 Jun 15.

Department of Cardiac Surgery, IRCCS San Raffaele Scientific Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2016.06.047DOI Listing
September 2016

Brain propagation of transduced α-synuclein involves non-fibrillar protein species and is enhanced in α-synuclein null mice.

Brain 2016 Mar 30;139(Pt 3):856-70. Epub 2015 Dec 30.

1 German Centre for Neurodegenerative Diseases (DZNE), Ludwig-Erhard-Allee 2, 53175 Bonn, Germany

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awv376DOI Listing
March 2016

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.

Neurobiol Dis 2015 Mar 6;75:100-14. Epub 2015 Jan 6.

Institute of Molecular and Cellular Pharmacology (IPMC), LabEx ICST, CNRS UMR7275 and University of Nice-Sophia Antipolis, 06560 Valbonne, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2014.12.028DOI Listing
March 2015

Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.

Proc Natl Acad Sci U S A 2013 Oct 7;110(43):17546-51. Epub 2013 Oct 7.

Institute of Molecular and Cellular Pharmacology, Laboratoire d'Excellence Canaux Ioniques d'Intérêt Thérapeutique, Centre National de la Recherche Scientifique, Unité Mixte de Recherche 7275, and University of Nice Sophia Antipolis, 06560 Valbonne, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1309827110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3808640PMC
October 2013

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

Epilepsia 2013 May 8;54(5):927-35. Epub 2013 Feb 8.

Institute of Molecular and Cellular Pharmacology, LabEx ICST, CNRS UMR7275, University of Nice-Sophia Antipolis, Valbonne, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12123DOI Listing
May 2013

Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.

Epilepsia 2012 Jan 9;53(1):87-100. Epub 2011 Dec 9.

Department of Neurophysiopathology, Besta Foundation Neurological Institute, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2011.03346.xDOI Listing
January 2012

Epileptogenic ion channel mutations: from bedside to bench and, hopefully, back again.

Epilepsy Res 2010 Nov 15;92(1):1-29. Epub 2010 Sep 15.

Institut de Pharmacologie Moléculaire et Cellulaire, CNRS UMR6097 and University of Nice-Sophia Antipolis, 660 route des Lucioles, 06560 Valbonne, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2010.08.003DOI Listing
November 2010

A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

Hum Mutat 2009 Jul;30(7):E747-60

Department of Neurophysiopathology, C.Besta Neurological Institute, 20133 Milano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21041DOI Listing
July 2009