H
Hylke M. Blauw
Researcher at Utrecht University
Publications - 24
Citations - 2730
Hylke M. Blauw is an academic researcher from Utrecht University. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Genome-wide association study. The author has an hindex of 20, co-authored 24 publications receiving 2417 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
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Michael A. van Es,Jan H. Veldink,Christiaan G J Saris,Hylke M. Blauw,Paul W.J. van Vught,Anna Birve,Robin Lemmens,Robin Lemmens,Helenius J. Schelhaas,Ewout J N Groen,Mark H B Huisman,Anneke J. van der Kooi,Marianne de Visser,Caroline Dahlberg,Karol Estrada,Fernando Rivadeneira,Albert Hofman,Machiel J. Zwarts,Perry T.C. van Doormaal,Dan Rujescu,Eric Strengman,Ina Giegling,Pierandrea Muglia,Barbara Tomik,Agnieszka Slowik,André G. Uitterlinden,Corinna Hendrich,Stefan Waibel,Thomas F. Meyer,Albert C. Ludolph,Jonathan D. Glass,Shaun Purcell,Sven Cichon,Markus M. Nöthen,H-Erich Wichmann,Stefan Schreiber,Sita H. Vermeulen,Lambertus A. Kiemeney,John H. J. Wokke,Simon Cronin,Simon Cronin,Russell L. McLaughlin,Russell L. McLaughlin,Orla Hardiman,Orla Hardiman,Katsumi Fumoto,R. Jeroen Pasterkamp,Vincent Meininger,Judith Melki,P. Nigel Leigh,Christopher Shaw,John Landers,John Landers,Ammar Al-Chalabi,Robert H. Brown,Robert H. Brown,Wim Robberecht,Wim Robberecht,Peter M. Andersen,Roel A. Ophoff,Roel A. Ophoff,Leonard H. van den Berg +61 more
TL;DR: A genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 revealed genome- wide significance for one SNP, rs12608932, which maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters at neuromuscular synapses.
Journal ArticleDOI
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
Michael A. van Es,Paul W.J. van Vught,Hylke M. Blauw,Lude Franke,Christiaan G J Saris,Ludo Van Den Bosch,Sonja W. de Jong,Vianney de Jong,Frank Baas,Frank Baas,Ruben van 't Slot,Robin Lemmens,Helenius J. Schelhaas,Anna Birve,Kristel Sleegers,Christine Van Broeckhoven,Jennifer C. Schymick,Bryan J. Traynor,John H. J. Wokke,Cisca Wijmenga,Wim Robberecht,Peter M. Andersen,Jan H. Veldink,Roel A. Ophoff,Roel A. Ophoff,Leonard H. van den Berg +25 more
TL;DR: This work has identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis in different populations of European ancestry and may be a target for future functional studies.
Journal ArticleDOI
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
Michael A. van Es,Paul W.J. van Vught,Hylke M. Blauw,Lude Franke,Christiaan G J Saris,Peter M. Andersen,Ludo Van Den Bosch,Sonja W. de Jong,Ruben van 't Slot,Anna Birve,Robin Lemmens,Vianney de Jong,Frank Baas,Helenius J. Schelhaas,Kristel Sleegers,Christine Van Broeckhoven,John H. J. Wokke,Cisca Wijmenga,Cisca Wijmenga,Wim Robberecht,Jan H. Veldink,Roel A. Ophoff,Roel A. Ophoff,Leonard H. van den Berg +23 more
TL;DR: A genetic variant in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2) is a strong candidate susceptibility gene for ALS because it is involved in glutamate-mediated neurotransmission, is one of the main regulators of intracellular calcium concentrations, and has an important role in apoptosis.
Journal ArticleDOI
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
John Landers,Judith Melki,Vincent Meininger,Jonathan D. Glass,Leonard H. van den Berg,Michael A. van Es,Peter C. Sapp,Peter C. Sapp,Paul W.J. van Vught,Diane McKenna-Yasek,Hylke M. Blauw,Ting Jan Cho,Meraida Polak,Lijia Shi,Anne-Marie Wills,Wendy J. Broom,Nicola Ticozzi,Nicola Ticozzi,Vincenzo Silani,Aslihan Ozoguz,Ildefonso Rodriguez-Leyva,Ildefonso Rodriguez-Leyva,Jan H. Veldink,Adrian J. Ivinson,Christiaan G J Saris,Betsy A. Hosler,Alayna Barnes-Nessa,Nicole R. Couture,John H. J. Wokke,Thomas J. Kwiatkowski,Roel A. Ophoff,Roel A. Ophoff,Simon Cronin,Orla Hardiman,Frank P. Diekstra,P. Nigel Leigh,Christopher Shaw,Claire L. Simpson,Valerie K. Hansen,John Powell,Philippe Corcia,François Salachas,Simon Heath,Pilar Galan,Franck Georges,H. Robert Horvitz,Mark Lathrop,Shaun Purcell,Ammar Al-Chalabi,Robert H. Brown,Robert H. Brown +50 more
TL;DR: Findings support the view that genetic factors modify phenotypes in this disease and that cellular motor proteins are determinants of motor neuron viability.