Publications by authors named "Corien C Verschuuren-Bemelmans"

22Publications

Predictive genetic testing in Huntington's disease: should a neurologist be involved?

Eur J Hum Genet 2020 Sep 13;28(9):1205-1209. Epub 2020 May 13.

Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41431-020-0633-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608370PMC
September 2020

Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.

Dev Med Child Neurol 2020 01 17;62(1):75-82. Epub 2019 Sep 17.

Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/dmcn.14355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916203PMC
January 2020

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 07;142(7):e31

Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awz140DOI Listing
July 2019

Crossing barriers: a multidisciplinary approach to children and adults with young-onset movement disorders.

J Clin Mov Disord 2018 6;5. Epub 2018 Apr 6.

1Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1186/s40734-018-0070-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887190PMC
April 2018

Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.

Mov Disord 2017 01 8;32(1):162-165. Epub 2016 Nov 8.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/mds.26842DOI Listing
January 2017

Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.

J Neurol Neurosurg Psychiatry 2015 Jul 13;86(7):774-81. Epub 2014 Nov 13.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands.

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http://dx.doi.org/10.1136/jnnp-2014-309106DOI Listing
July 2015

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Eur J Hum Genet 2013 Nov 27;21(11):1312-5. Epub 2013 Feb 27.

Department of Neurology, Radboud University, Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798836PMC
November 2013

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Brain 2012 Oct 10;135(Pt 10):2994-3004. Epub 2012 Sep 10.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1093/brain/aws224DOI Listing
October 2012

Characteristics of dystonia in the 18p deletion syndrome, including a new case.

Clin Neurol Neurosurg 2009 Dec 20;111(10):880-2. Epub 2009 Aug 20.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.clineuro.2009.07.013DOI Listing
December 2009

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.

Eur J Hum Genet 2008 Nov 4;16(11):1407-11. Epub 2008 Jun 4.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2008.108DOI Listing
November 2008

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.

Hum Genet 2005 Jun 20;117(1):88-91. Epub 2005 Apr 20.

Department of Biomedical Genetics, University Medical Center Utrecht, Stratenum, The Netherlands.

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http://link.springer.com/10.1007/s00439-005-1278-z
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http://dx.doi.org/10.1007/s00439-005-1278-zDOI Listing
June 2005