Publications by authors named "Fred van Ruissen"

28Publications

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

J Peripher Nerv Syst 2017 12 11;22(4):464-467. Epub 2017 Sep 11.

Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/jns.12236DOI Listing
December 2017

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

JIMD Rep 2017 29;33:87-92. Epub 2016 Sep 29.

Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413457PMC
September 2016

Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.

Neurol India 2016 Sep-Oct;64(5):980-3

Department of Pediatrics, Division of Pediatric Neurology, Lady Harding Medical College and Associated Kalawati Saran Children Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0028-3886.190255DOI Listing
November 2018

Effective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B.

Neuromuscul Disord 2016 Dec 22;26(12):837-840. Epub 2016 Aug 22.

Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2016.08.010DOI Listing
December 2016

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2015 23;16(5-6):410-1. Epub 2015 Jul 23.

a Department of Neurology , The Netherlands.

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http://dx.doi.org/10.3109/21678421.2015.1066821DOI Listing
August 2016

The phenotype of the Gly94fsX222 PMP22 insertion.

J Peripher Nerv Syst 2011 Jun;16(2):113-8

Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00333.xDOI Listing
June 2011

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Eur J Hum Genet 2011 Jun 2;19(6):724-6. Epub 2011 Feb 2.

Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110057PMC
June 2011

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Eur J Hum Genet 2010 Apr 4;18(4):421-8. Epub 2009 Nov 4.

Neurogenetics Lab, Department of Neurogenetics K2-213, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2009.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987248PMC
April 2010

Scaling of gene expression data allowing the comparison of different gene expression platforms.

Methods Mol Biol 2008 ;387:169-83

Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://link.springer.com/content/pdf/10.1007/978-1-59745-454
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http://dx.doi.org/10.1007/978-1-59745-454-4_13DOI Listing
April 2008

Statistical comparison of two or more SAGE libraries: one tag at a time.

Methods Mol Biol 2008 ;387:151-68

Department of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-59745-454-4_12DOI Listing
April 2008

Serial analysis of gene expression (SAGE).

Methods Mol Biol 2007 ;383:41-66

Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-59745-335-6_4DOI Listing
April 2008

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.

Neuromuscul Disord 2008 Jan 6;18(1):59-62. Epub 2007 Sep 6.

Department of Pediatric Neurology, Erasmus MC-Sophia Children's Hospital, Dr. Molewaterplein 60, PO Box 2060, 3000 CB Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2007.07.011DOI Listing
January 2008

Comparison of Schwann cell and sciatic nerve transcriptomes indicates that mouse is a valid model for the human peripheral nervous system.

J Neurosci Res 2006 Aug;84(3):542-52

Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/jnr.20966DOI Listing
August 2006

Evaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChips.

BMC Genomics 2005 Jun 14;6:91. Epub 2005 Jun 14.

Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1471-2164-6-91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1186021PMC
June 2005

Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries.

FASEB J 2005 Mar 3;19(3):404-6. Epub 2005 Jan 3.

Department of Neurogenetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1096/fj.04-2104fjeDOI Listing
March 2005

Serial analysis of gene expression in human keratinocytes and epidermis.

Methods Mol Biol 2005 ;289:383-98

Department of Tumor Immunology, Nijmegan Center for Molecular Life Sciences, The Netherlands.

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http://dx.doi.org/10.1385/1-59259-830-7:383DOI Listing
March 2005

Development of a keratinocyte-based screening model for antipsoriatic drugs using green fluorescent protein under the control of an endogenous promoter.

J Biomol Screen 2002 Aug;7(4):325-32

Department of Dermatology, University Medical Center St. Radboud, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/108705710200700404DOI Listing
August 2002

A simple technique for high-throughput screening of drugs that modulate normal and psoriasis-like differentiation in cultured human keratinocytes.

Skin Pharmacol Appl Skin Physiol 2002 Jul-Aug;15(4):252-61

Department of Dermatology, University Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000066010DOI Listing
October 2002

A partial transcriptome of human epidermis.

Genomics 2002 May;79(5):671-8

Neurozintuigen Laboratory, Academic Medical Center, 1100 D Amsterdam, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S088875430296756
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http://dx.doi.org/10.1006/geno.2002.6756DOI Listing
May 2002

Differential gene expression in premalignant human epidermis revealed by cluster analysis of serial analysis of gene expression (SAGE) libraries.

FASEB J 2002 Feb 28;16(2):246-8. Epub 2001 Dec 28.

Department of Dermatology, University Medical Center, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1096/fj.01-0618fjeDOI Listing
February 2002