Publications by authors named "Marian A J Weterman"

21Publications

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

Ann Clin Transl Neurol 2016 Feb 22;3(2):146-9. Epub 2015 Dec 22.

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

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http://dx.doi.org/10.1002/acn3.281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748314PMC
February 2016

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

LAD-1/variant syndrome is caused by mutations in FERMT3.

Blood 2009 May 8;113(19):4740-6. Epub 2008 Dec 8.

Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1182/blood-2008-10-182154DOI Listing
May 2009

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

Brain 2007 Sep 9;130(Pt 9):2258-66. Epub 2007 Aug 9.

Department of Pediatric Neurology, Emma Children's Hospital/AMC, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1093/brain/awm188DOI Listing
September 2007

Exclusion of RUNX3 as a tumour-suppressor gene in early-onset gastric carcinomas.

Oncogene 2005 Dec;24(56):8252-8

Department of Pathology, Academisch Medisch Centrum, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.onc.1208963DOI Listing
December 2005

Do collision tumors of the gastroesophageal junction exist? A molecular analysis.

Am J Surg Pathol 2004 Nov;28(11):1492-8

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

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http://dx.doi.org/10.1097/01.pas.0000138184.74496.4dDOI Listing
November 2004

Understanding familial and non-familial renal cell cancer.

Hum Mol Genet 2002 Oct;11(20):2489-98

Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/hmg/11.20.2489DOI Listing
October 2002