H
Helenius J. Schelhaas
Researcher at Radboud University Nijmegen
Publications - 99
Citations - 5970
Helenius J. Schelhaas is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Epilepsy. The author has an hindex of 41, co-authored 96 publications receiving 5348 citations. Previous affiliations of Helenius J. Schelhaas include Radboud University Nijmegen Medical Centre & Maastricht University.
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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
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
Marka van Blitterswijk,Michael A. van Es,Eric A. M. Hennekam,Dennis Dooijes,Wouter van Rheenen,Jelena Medic,Pierre R. Bourque,Helenius J. Schelhaas,Anneke J. van der Kooi,Marianne de Visser,Paul I.W. de Bakker,Jan H. Veldink,Leonard H. van den Berg +12 more
TL;DR: Evidence for an oligogenic aetiology of ALS is provided and may have important implications for the interpretation of whole exome/genome experiments designed to identify new ALS-associated genes and for genetic counselling, especially of unaffected family members.
Journal ArticleDOI
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
Javier Simón-Sánchez,Elise G.P. Dopper,Elise G.P. Dopper,Petra E. Cohn-Hokke,Renate K. Hukema,Nayia Nicolaou,Harro Seelaar,J. Roos A. de Graaf,Inge de Koning,Natasja M. van Schoor,Dorly J. H. Deeg,Marion Smits,Joost Raaphorst,Leonard H. van den Berg,Helenius J. Schelhaas,Christine E. M. de Die-Smulders,Danielle Majoor-Krakauer,Annemieke J.M. Rozemuller,Rob Willemsen,Yolande A.L. Pijnenburg,Peter Heutink,John C. van Swieten,John C. van Swieten +22 more
TL;DR: Investigation of clinical and neuropathological characteristics of hexanucleotide repeat expansions in C9orf72 in a large cohort of Dutch patients with frontotemporal dementia found neuronal and glial inclusions, and dystrophic neurites containing transactive response DNA binding protein.
Journal ArticleDOI
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Michaela Auer-Grumbach,Andrea Olschewski,Lea Papić,Hannie Kremer,Meriel McEntagart,Sabine Uhrig,Carina Fischer,Eleonore Fröhlich,Zoltán Bálint,Bi Tang,Heimo Strohmaier,Hanns Lochmüller,Beate Schlotter-Weigel,Jan Senderek,Angelika Krebs,Katherine J. Dick,Richard E. Petty,Cheryl Longman,Neil E Anderson,George W. Padberg,Helenius J. Schelhaas,Conny M. A. van Ravenswaaij-Arts,Thomas R. Pieber,Andrew H. Crosby,Christian Guelly +24 more
TL;DR: A new hereditary channelopathy caused by mutations in TRPV4 is described and evidence that the resulting substitutions in the N-terminal ankyrin domain affect channel maturation, leading to reduced surface expression of functional TRpV4 channels is presented.
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.