Literature DB >> 27781026

Towards a Molecular Syndromology of the Epilepsies.

Thomas Dorn, Johannes R Lemke.   

Abstract

Entities:  

Year:  2016        PMID: 27781026      PMCID: PMC5073502          DOI: 10.1159/000448358

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


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  6 in total

1.  The genetics of common epilepsies: common or distinct?

Authors:  Deb K Pal; Lisa J Strug
Journal:  Lancet Neurol       Date:  2014-07-30       Impact factor: 44.182

2.  Everolimus treatment of refractory epilepsy in tuberous sclerosis complex.

Authors:  Darcy A Krueger; Angus A Wilfong; Katherine Holland-Bouley; Anne E Anderson; Karen Agricola; Cindy Tudor; Maxwell Mays; Christina M Lopez; Mi-Ok Kim; David Neal Franz
Journal:  Ann Neurol       Date:  2013-09-10       Impact factor: 10.422

3.  Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.

Authors:  David Neal Franz; Elena Belousova; Steven Sparagana; E Martina Bebin; Michael Frost; Rachel Kuperman; Olaf Witt; Michael H Kohrman; J Robert Flamini; Joyce Y Wu; Paolo Curatolo; Petrus J de Vries; Vicky H Whittemore; Elizabeth A Thiele; James P Ford; Gaurav Shah; Helene Cauwel; David Lebwohl; Tarek Sahmoud; Sergiusz Jozwiak
Journal:  Lancet       Date:  2012-11-14       Impact factor: 79.321

4.  Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial.

Authors:  John J Bissler; J Christopher Kingswood; Elżbieta Radzikowska; Bernard A Zonnenberg; Michael Frost; Elena Belousova; Matthias Sauter; Norio Nonomura; Susanne Brakemeier; Petrus J de Vries; Vicky H Whittemore; David Chen; Tarek Sahmoud; Gaurav Shah; Jeremie Lincy; David Lebwohl; Klemens Budde
Journal:  Lancet       Date:  2013-03-09       Impact factor: 79.321

Review 5.  Mechanisms underlying epilepsies associated with sodium channel mutations.

Authors:  Ortrud K Steinlein
Journal:  Prog Brain Res       Date:  2014       Impact factor: 2.453

6.  Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

Authors:  Dennis Lal; Ann-Kathrin Ruppert; Holger Trucks; Herbert Schulz; Carolien G de Kovel; Dorothée Kasteleijn-Nolst Trenité; Anja C M Sonsma; Bobby P Koeleman; Dick Lindhout; Yvonne G Weber; Holger Lerche; Claudia Kapser; Christoph J Schankin; Wolfram S Kunz; Rainer Surges; Christian E Elger; Verena Gaus; Bettina Schmitz; Ingo Helbig; Hiltrud Muhle; Ulrich Stephani; Karl M Klein; Felix Rosenow; Bernd A Neubauer; Eva M Reinthaler; Fritz Zimprich; Martha Feucht; Rikke S Møller; Helle Hjalgrim; Peter De Jonghe; Arvid Suls; Wolfgang Lieb; Andre Franke; Konstantin Strauch; Christian Gieger; Claudia Schurmann; Ulf Schminke; Peter Nürnberg; Thomas Sander
Journal:  PLoS Genet       Date:  2015-05-07       Impact factor: 5.917

  6 in total

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