J
Justus L. Groen
Researcher at University of Amsterdam
Publications - 33
Citations - 1085
Justus L. Groen is an academic researcher from University of Amsterdam. The author has contributed to research in topics: Dystonia & Cervical dystonia. The author has an hindex of 15, co-authored 29 publications receiving 977 citations. Previous affiliations of Justus L. Groen include Leiden University Medical Center & VU University Medical Center.
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Journal ArticleDOI
Analysis of the PINK1 Gene in a Large Cohort of Cases With Parkinson Disease
Ekaterina Rogaeva,Janel O. Johnson,Anthony E. Lang,Cindy Gulick,Katrina Gwinn-Hardy,Toshitaka Kawarai,Christine Sato,Angharad R. Morgan,John S. Werner,Robert L. Nussbaum,Agnes Petit,Michael S. Okun,Aideen McInerney,Ronald J. Mandel,Justus L. Groen,Hubert H. Fernandez,Ronald B. Postuma,Kelly D. Foote,Shabnam Salehi-Rad,Yan Liang,Sharon Reimsnider,Anurag Tandon,John Hardy,Peter St George-Hyslop,Andrew B. Singleton +24 more
TL;DR: Autosomal recessive mutations in PINK1 are a rare cause of young-onset Parkinson disease, including the first reported compound heterozygous mutation (Glu240Lys and Leu489Pro) and a homozygous Leu347Pro mutation in 2 unrelated young-ONSET Parkinson disease patients.
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Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Katja Lohmann,Robert A. Wilcox,Susen Winkler,Alfredo Ramirez,Alfredo Ramirez,Aleksandar Rakovic,Jin-Sung Park,Björn Arns,Thora Lohnau,Justus L. Groen,Meike Kasten,Norbert Brüggemann,Johann Hagenah,Alexander Schmidt,Frank J. Kaiser,Kishore R. Kumar,Kishore R. Kumar,Katja Zschiedrich,Daniel Alvarez-Fischer,Eckart Altenmüller,Andreas Ferbert,Anthony E. Lang,Alexander Münchau,Vladimir S. Kostic,Kristina Simonyan,Marc Agzarian,Laurie J. Ozelius,Antonius P. M. Langeveld,Carolyn M. Sue,Marina A. J. Tijssen,Christine Klein +30 more
TL;DR: A study was undertaken to identify the gene underlying DYT4 dySTONia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus in an Australian family.
Journal ArticleDOI
DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation.
Justus L. Groen,Katja Ritz,Maria Fiorella Contarino,Bart P.C. van de Warrenburg,Majid Aramideh,E.M.J. Foncke,Jacobus J. van Hilten,P. Richard Schuurman,Johannes D. Speelman,J.H. Koelman,Rob M.A. de Bie,Frank Baas,Marina A. J. Tijssen +12 more
TL;DR: The phenotype of DYT6 dystonia patients and their response on GPi DBS is described, and rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dySTONia group and one in the control group.
Journal ArticleDOI
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease
Maria G. Macedo,Dagmar Verbaan,Y. Fang,Stephanie M. van Rooden,Martine Visser,Burcu Anar,Antonella Uras,Justus L. Groen,Patrizia Rizzu,Jacobus J. van Hilten,Peter Heutink +10 more
TL;DR: Parkin is the most frequently mutated gene in this EOPD cohort, followed by DJ‐1, PINK1 and LRRK2, and the low overall mutation frequency indicates that the extrapolation of mutation frequencies from other populations should be applied with caution.
Journal ArticleDOI
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome
Justus L. Groen,Arturo Andrade,Katja Ritz,Hamid Jalalzadeh,Martin A. Haagmans,Ted E.J. Bradley,Aldo Jongejan,Dineke S. Verbeek,Peter Nürnberg,Sylvia Denome,Raoul C.M. Hennekam,Diane Lipscombe,Frank Baas,Marina A. J. Tijssen +13 more
TL;DR: Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, a mutation in the CACNA1B gene, coding for neuronal voltage-gated calcium channels CaV 2.2.2 channels was identified.