S
Stefanie H. Müller
Researcher at University of Kiel
Publications - 14
Citations - 477
Stefanie H. Müller is an academic researcher from University of Kiel. The author has contributed to research in topics: Exome sequencing & Essential tremor. The author has an hindex of 7, co-authored 13 publications receiving 355 citations. Previous affiliations of Stefanie H. Müller include University College London & Technische Universität München.
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Journal ArticleDOI
Gut microbiota in Parkinson disease in a northern German cohort.
Franziska Hopfner,Axel Künstner,Axel Künstner,Stefanie H. Müller,Sven Künzel,Kirsten E. Zeuner,Nils G. Margraf,Günther Deuschl,John F. Baines,John F. Baines,Gregor Kuhlenbäumer +10 more
TL;DR: Whether Parkinson disease is associated with qualitative or quantitative changes in the gut microbiome is determined by next-generation-sequencing of the 16S rRNA gene and diversity indices and bacterial abundances between cases and controls.
Journal ArticleDOI
Genome-wide association study in essential tremor identifies three new loci
Stefanie H. Müller,Simon Girard,Simon Girard,Franziska Hopfner,Nancy D. Merner,Nancy D. Merner,Cynthia V. Bourassa,Delia Lorenz,Lorraine N. Clark,Lukas Tittmann,Alexandra I. Soto-Ortolaza,Stephan Klebe,Mark Hallett,Susanne A. Schneider,Susanne A. Schneider,Colin A. Hodgkinson,Wolfgang Lieb,Zbigniew K. Wszolek,Manuela Pendziwiat,Oswaldo Lorenzo-Betancor,Oswaldo Lorenzo-Betancor,Werner Poewe,Sara Ortega-Cubero,Sara Ortega-Cubero,Klaus Seppi,Alex Rajput,Anna Hussl,Ali H. Rajput,Daniela Berg,Patrick A. Dion,Isabel Wurster,Joshua M. Shulman,Karin Srulijes,Dietrich Haubenberger,Pau Pastor,Pau Pastor,Carles Vilariño-Güell,Ronald B. Postuma,Ronald B. Postuma,Geneviève Bernard,Geneviève Bernard,Karl-Heinz Ladwig,Nicolas Dupré,Joseph Jankovic,Konstantin Strauch,Michel Panisset,Juliane Winkelmann,Claudia M. Testa,Eva Reischl,Kirsten E. Zeuner,Owen A. Ross,Thomas Arzberger,Sylvain Chouinard,Günther Deuschl,Elan D. Louis,Gregor Kuhlenbäumer,Guy A. Rouleau +56 more
TL;DR: A genome-wide association study in more than 2800 patients with essential tremor and more than 6800 controls of European descent is conducted, and three new loci associated with the disease are identified.
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Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
Silke Appenzeller,Ingo Helbig,Ulrich Stephani,Martin Häusler,Gerhard Kluger,May Bungeroth,Stefanie H. Müller,Gregor Kuhlenbäumer,Andreas van Baalen +8 more
TL;DR: The aim of the study was the mutation analysis of these prime candidate genes in a cohort of patients with FIRES and given that rare copy number variations (CNVs) have recently been established as important risk factors for epilepsies, a genome‐wide CNV analysis was performed.
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Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians
Kinya Ishikawa,Alexandra Durr,Thomas Klopstock,Stefanie H. Müller,B. de Toffol,M. Vidailhet,Alain Vighetto,Cecilia Marelli,H-Erich Wichmann,Thomas Illig,Yusuke Niimi,Nozomu Sato,T. Amino,Giovanni Stevanin,Alexis Brice,Hidehiro Mizusawa +15 more
TL;DR: The SCA31 mutation was directly tested in large European cohorts of SCA families and DNA sequencing revealed that the expansions were located at the same position as in Japanese ataxia syndrome.
Journal ArticleDOI
Topography of essential tremor.
Wei Chen,Franziska Hopfner,Silke Szymczak,Oliver Granert,Stefanie H. Müller,Gregor Kuhlenbäumer,Günther Deuschl +6 more
TL;DR: Female gender and severe hand tremor may increase the odds of head and/or voice tremor in essential tremor.