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Beatrice Stubendorff
Publications - 32
Citations - 1398
Beatrice Stubendorff is an academic researcher. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Medicine. The author has an hindex of 9, co-authored 27 publications receiving 890 citations.
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Journal ArticleDOI
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Wouter van Rheenen,Aleksey Shatunov,Annelot M. Dekker,Russell L. McLaughlin,Frank P. Diekstra,Sara L. Pulit,Rick A.A. van der Spek,Urmo Võsa,Simone de Jong,Simone de Jong,Matthew R. Robinson,Jian Yang,Isabella Fogh,Isabella Fogh,Perry T.C. van Doormaal,Gijs H.P. Tazelaar,Max Koppers,Anna M. Blokhuis,William Sproviero,Ashley R. Jones,Kevin P. Kenna,Kristel R. van Eijk,Oliver Harschnitz,Raymond D. Schellevis,William J. Brands,Jelena Medic,Androniki Menelaou,Alice Vajda,Alice Vajda,Nicola Ticozzi,Kuang Lin,Boris Rogelj,Katarina Vrabec,Metka Ravnik-Glavač,Blaž Koritnik,Janez Zidar,Lea Leonardis,Leja Dolenc Grošelj,Stéphanie Millecamps,François Salachas,Vincent Meininger,Mamede de Carvalho,Susana Pinto,Jesus S. Mora,Ricardo Rojas-García,Meraida Polak,Siddharthan Chandran,Shuna Colville,Robert Swingler,Karen E. Morrison,Pamela J. Shaw,John Hardy,Richard W. Orrell,Alan M. Pittman,Katie Sidle,Pietro Fratta,Andrea Malaspina,Simon Topp,Susanne Petri,Susanne Abdulla,Carsten Drepper,Michael Sendtner,Thomas F. Meyer,Roel A. Ophoff,Roel A. Ophoff,Roel A. Ophoff,Kim A. Staats,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M. Van Deerlin,John Q. Trojanowski,Lauren Elman,Leo McCluskey,A. Nazli Basak,Ceren Tunca,Hamid Hamzeiy,Yesim Parman,Thomas Meitinger,Peter Lichtner,Milena Radivojkov-Blagojevic,Christian R. Andres,Cindy Maurel,Gilbert Bensimon,Bernhard Landwehrmeyer,Alexis Brice,Christine Payan,Safaa Saker-Delye,Alexandra Durr,Nicholas W. Wood,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Marcella Rietschel,Sven Cichon,Markus M. Nöthen,Philippe Amouyel,Christophe Tzourio,Jean-François Dartigues,André G. Uitterlinden,Fernando Rivadeneira,Karol Estrada,Albert Hofman,Albert Hofman,Charles Curtis,Charles Curtis,Hylke M. Blauw,Anneke J. van der Kooi,Marianne de Visser,An Goris,Markus Weber,Christopher Shaw,Bradley N. Smith,Orietta Pansarasa,Cristina Cereda,Roberto Del Bo,Giacomo P. Comi,Sandra D'Alfonso,Cinzia Bertolin,Gianni Sorarù,Letizia Mazzini,Viviana Pensato,Cinzia Gellera,Cinzia Tiloca,Antonia Ratti,Andrea Calvo,Cristina Moglia,Maura Brunetti,Simona Arcuti,Rosa Capozzo,Chiara Zecca,Christian Lunetta,Silvana Penco,Nilo Riva,Alessandro Padovani,Massimiliano Filosto,Bernard Muller,Robbert Jan Stuit,Ian P. Blair,Katharine Y. Zhang,Emily P. McCann,Jennifer A. Fifita,Garth A. Nicholson,Garth A. Nicholson,Dominic B. Rowe,Roger Pamphlett,Matthew C. Kiernan,Julian Grosskreutz,Otto W. Witte,Thomas M. Ringer,Tino Prell,Beatrice Stubendorff,Ingo Kurth,Christian A. Hübner,P. Nigel Leigh,Federico Casale,Adriano Chiò,Ettore Beghi,Elisabetta Pupillo,Rosanna Tortelli,Giancarlo Logroscino,John Powell,Albert C. Ludolph,Jochen H. Weishaupt,Wim Robberecht,Philip Van Damme,Lude Franke,Tune H. Pers,Robert H. Brown,Jonathan D. Glass,John Landers,Orla Hardiman,Orla Hardiman,Peter M. Andersen,Peter M. Andersen,Philippe Corcia,Patrick Vourc'h,Vincenzo Silani,Naomi R. Wray,Peter M. Visscher,Paul I.W. de Bakker,Michael A. van Es,R. Jeroen Pasterkamp,Cathryn M. Lewis,Gerome Breen,Gerome Breen,Ammar Al-Chalabi,Leonard H. van den Berg,Jan H. Veldink +187 more
TL;DR: Evidence of ALS being a complex genetic trait with a polygenic architecture is established and the SNP-based heritability is estimated at 8.5%, with a distinct and important role for low-frequency variants (frequency 1–10%).
Journal ArticleDOI
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Henk Jan Westeneng,Thomas P. A. Debray,Anne E. Visser,Ruben P A van Eijk,James Rooney,Andrea Calvo,Sarah Martin,Christopher J McDermott,Alexander G. Thompson,Susana Pinto,Xenia Kobeleva,Angela Rosenbohm,Beatrice Stubendorff,Helma Sommer,Bas M. Middelkoop,Annelot M. Dekker,Joke van Vugt,Wouter van Rheenen,Alice Vajda,Mark Heverin,Mbombe Kazoka,Hannah Hollinger,Marta Gromicho,Sonja Körner,Thomas M. Ringer,A. Rödiger,A. Gunkel,Christopher Shaw,Annelien L. Bredenoord,Michael A van Es,Philippe Corcia,Philippe Couratier,Markus Weber,Julian Grosskreutz,Albert C. Ludolph,Susanne Petri,Mamede de Carvalho,Philip Van Damme,Kevin Talbot,Martin R Turner,Pamela J. Shaw,Ammar Al-Chalabi,Adriano Chiò,Orla Hardiman,Orla Hardiman,Karel G.M. Moons,Jan H. Veldink,Leonard H. van den Berg +47 more
TL;DR: An externally validated model is developed to predict survival without tracheostomy and non-invasive ventilation for more than 23 h per day in European patients with ALS and could be applied to individualised patient management, counselling, and future trial design.
Journal ArticleDOI
Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.
Koen Poesen,Maxim De Schaepdryver,Beatrice Stubendorff,Benjamin Gille,Petra Muckova,Sindy Wendler,Tino Prell,Thomas M. Ringer,Heidrun Rhode,Olivier Stevens,Kristl G. Claeys,Goedele Couwelier,Ann D'Hondt,Nikita Lamaire,Petra Tilkin,Dimphna Van Reijen,Sarah Gourmaud,Nadin Fedtke,Bianka Heiling,Matthias Rumpel,A. Rödiger,A. Gunkel,Otto W. Witte,Claire Paquet,Rik Vandenberghe,Julian Grosskreutz,Philip Van Damme +26 more
TL;DR: This study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS and shows an added value as diagnostic biomarkers for ALS, whereas the prognostic value of pNFH andNfL warrants further investigation.
Journal ArticleDOI
Multicenter evaluation of neurofilaments in early symptom onset amyotrophic lateral sclerosis
Emily Feneberg,Patrick Oeckl,Petra Steinacker,Federico Verde,Christian Barro,Philip Van Damme,Elizabeth Gray,Julian Grosskreutz,Claude Jardel,Jens Kuhle,Sonja Koerner,Foudil Lamari,Maria del Mar Amador,Benjamin Mayer,Claudia Morelli,Petra Muckova,Susanne Petri,Koen Poesen,Joost Raaphorst,François Salachas,Vincenzo Silani,Beatrice Stubendorff,Martin R Turner,Marcel M. Verbeek,Jochen H. Weishaupt,Patrick Weydt,Albert C. Ludolph,Markus Otto +27 more
TL;DR: This study provides Class II evidence that CSF and serum Nf concentrations discriminate ALS with early symptom onset from other neurologic diseases.
Posted ContentDOI
Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
Wouter van Rheenen,Rick A.A. van der Spek,Mark K Bakker,Joke J.F.A. van Vugt,Paul J. Hop,Ramona A. J. Zwamborn,Niek de Klein,Harm-Jan Westra,Olivier B. Bakker,Patrick Deelen,Patrick Deelen,Gemma Shireby,Eilis Hannon,Matthieu Moisse,Denis Baird,Restuadi Restuadi,Egor Dolzhenko,Annelot M. Dekker,Klara Gawor,Henk-Jan Westeneng,Gijs H.P. Tazelaar,Kristel R. van Eijk,Maarten Kooyman,Ross P. Byrne,Mark A. Doherty,Mark Heverin,Ahmad Al Khleifat,Alfredo Iacoangeli,Alfredo Iacoangeli,Aleksey Shatunov,Nicola Ticozzi,Johnathan Cooper-Knock,Bradley N. Smith,Marta Gromicho,Siddharthan Chandran,Suvankar Pal,Karen E. Morrison,Pamela J. Shaw,John Hardy,Richard W. Orrell,Michael Sendtner,Thomas Meyer,Nazli Basak,Anneke J. van der Kooi,Antonia Ratti,Isabella Fogh,Cinzia Gellera,Giuseppe Lauria Pinter,Stefania Corti,Cristina Cereda,Daisy Sproviero,Sandra D'Alfonso,Gianni Sorarù,Gabriele Siciliano,Massimiliano Filosto,Alessandro Padovani,Adriano Chiò,Andrea Calvo,Cristina Moglia,Maura Brunetti,Antonio Canosa,Maurizio Grassano,Ettore Beghi,Elisabetta Pupillo,Giancarlo Logroscino,Beatrice Nefussy,Alma Osmanovic,Angelica Nordin,Yossef Lerner,Yossef Lerner,Michal Zabari,Michal Zabari,Marc Gotkine,Marc Gotkine,Robert H. Baloh,Shaughn Bell,Patrick Vourc'h,Philippe Corcia,Philippe Couratier,Stéphanie Millecamps,Vincent Meininger,François Salachas,Jesus S. Mora Pardina,Abdelilah Assialioui,Ricardo Rojas-García,Patrick A. Dion,Jay P. Ross,Jay P. Ross,Albert C. Ludolph,Jochen H. Weishaupt,David A. Brenner,Axel Freischmidt,Axel Freischmidt,Gilbert Bensimon,Alexis Brice,Alexandra Durr,Christine Payan,Safa Saker-Delye,Nicholas W. Wood,Simon Topp,Rosa Rademakers,Lukas Tittmann,Wolfgang Lieb,Andre Franke,Stephan Ripke,Stephan Ripke,Stephan Ripke,Alice Braun,Julia Kraft,David C. Whiteman,Catherine M. Olsen,André G. Uitterlinden,Albert Hofman,Marcella Rietschel,Sven Cichon,Markus M. Nöthen,Philippe Amouyel,Bryan J. Traynor,Bryan J. Traynor,Adrew B. Singleton,Miguel Mitne Neto,Ruben J. Cauchi,Roel A. Ophoff,Roel A. Ophoff,Roel A. Ophoff,Martina Wiedau-Pazos,Catherine Lomen-Hoerth,Vivianna M. Van Deerlin,Julian Grosskreutz,A. Rödiger,Nayana Gaur,Alexander Jörk,Tabea Barthel,Erik Theele,Benjamin Ilse,Beatrice Stubendorff,Otto W. Witte,Robert Steinbach,Christian A. Hübner,Caroline Graff,Lev Brylev,Vera Fominykh,Vera Demeshonok,Anastasia Ataulina,Boris Rogelj,Blaž Koritnik,Janez Zidar,Metka Ravnik-Glavač,Damjan Glavač,Zorica Stevic,Vivian E. Drory,Mònica Povedano,Ian P. Blair,Matthew C. Kiernan,Beben Benyamin,Beben Benyamin,Robert D. Henderson,Robert D. Henderson,Sarah Furlong,Susan Mathers,Pamela A. McCombe,Pamela A. McCombe,Merrilee Needham,Merrilee Needham,Merrilee Needham,Shyuan T. Ngo,Garth A. Nicholson,Roger Pamphlett,Dominic B. Rowe,Frederik J. Steyn,Frederik J. Steyn,Kelly L. Williams,Karen A. Mather,Karen A. Mather,Perminder S. Sachdev,Anjali K. Henders,Leanne Wallace,Mamede de Carvalho,Susana Pinto,Susanne Petri,Markus Weber,Guy A. Rouleau,Vincenzo Silani,Charles Curtis,Gerome Breen,Gerome Breen,Jonathan D. Glass,Robert H. Brown,John Landers,Christopher Shaw,Peter M. Andersen,Ewout J N Groen,Michael A. van Es,R. Jeroen Pasterkamp,Dongsheng Fan,Fleur C. Garton,Allan F. McRae,George Davey Smith,Tom R. Gaunt,Michael A. Eberle,Jonathan Mill,Russell L. McLaughlin,Orla Hardiman,Kevin P. Kenna,Naomi R. Wray,Ellen A. Tsai,Heiko Runz,Lude Franke,Ammar Al-Chalabi,Ammar Al-Chalabi,Philip Van Damme,Leonard H. van den Berg,Jan H. Veldink +212 more
TL;DR: All ALS associated signals combined reveal a role for perturbations in vesicle mediated transport and autophagy, and provide evidence for cell-autonomous disease initiation in glutamatergic neurons.