Frank Baas

Frank Baas

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Non-response to rituximab therapy in rheumatoid arthritis is associated with incomplete disruption of the B cell receptor repertoire.

Ann Rheum Dis 2019 Oct 19;78(10):1339-1345. Epub 2019 Jun 19.

Amsterdam Rheumatology and Immunology Center (ARC) | Department of Clinical Immunology and Rheumatology, Amsterdam UMC, location AMC, University of Amsterdam, Amsterdam, The Netherlands

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http://dx.doi.org/10.1136/annrheumdis-2018-214898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6788876PMC
October 2019

Ellis-van Creveld syndrome in a patient from Tanzania.

Am J Med Genet A 2019 Oct 26;179(10):2034-2038. Epub 2019 Jul 26.

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

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http://dx.doi.org/10.1002/ajmg.a.61309DOI Listing
October 2019

Diurnal rhythms in the white adipose tissue transcriptome are disturbed in obese individuals with type 2 diabetes compared with lean control individuals.

Diabetologia 2019 04 9;62(4):704-716. Epub 2019 Feb 9.

Department of Endocrinology and Metabolism, Amsterdam UMC, location AMC, University of Amsterdam, room F5-162, P.O. Box 22660, 1100 DD, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1007/s00125-019-4813-5DOI Listing
April 2019

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

J Inherit Metab Dis 2018 09 20;41(5):897-898. Epub 2018 Feb 20.

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/s10545-018-0151-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133186PMC
September 2018

In Rheumatoid Arthritis, Synovitis at Different Inflammatory Sites Is Dominated by Shared but Patient-Specific T Cell Clones.

J Immunol 2018 07 11;201(2):417-422. Epub 2018 Jun 11.

Department of Clinical Immunology and Rheumatology, Amsterdam Rheumatology and Immunology Center, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands;

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http://dx.doi.org/10.4049/jimmunol.1800421DOI Listing
July 2018

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

Orphanet J Rare Dis 2018 06 15;13(1):92. Epub 2018 Jun 15.

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

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http://dx.doi.org/10.1186/s13023-018-0826-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003036PMC
June 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

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

Neural response to alcohol taste cues in youth: effects of the OPRM1 gene.

Addict Biol 2017 Nov 5;22(6):1562-1575. Epub 2016 Sep 5.

Addiction, Development and Psychopathology (ADAPT)-lab, Department of Psychology, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/adb.12440DOI Listing
November 2017

In Situ complement activation and T-cell immunity in leprosy spectrum: An immunohistological study on leprosy lesional skin.

PLoS One 2017 15;12(5):e0177815. Epub 2017 May 15.

Department of Clinical Immunology, Colleges of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0177815PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432188PMC
September 2017

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Am J Hum Genet 2017 Sep 17;101(3):441-450. Epub 2017 Aug 17.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590949PMC
September 2017

Effect of Hyperglycemia on Gene Expression during Early Organogenesis in Mice.

PLoS One 2016 19;11(7):e0158035. Epub 2016 Jul 19.

Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0158035PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4951019PMC
July 2017

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.

Retina 2017 Jan;37(1):161-172

*Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands; †The Rotterdam Eye Hospital, Rotterdam, the Netherlands; ‡Rivas Zorggroep, Vianen, the Netherlands; §Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands; ¶The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, the Netherlands; and **Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000001127DOI Listing
January 2017

Oncogenic Properties of Candidate Oncogenes in Chromosome Region 17p11.2p12 in Human Osteosarcoma.

Cytogenet Genome Res 2016 16;150(1):52-59. Epub 2016 Nov 16.

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

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http://dx.doi.org/10.1159/000451046DOI Listing
January 2017

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

Am J Med Genet A 2017 Jan 9;173(1):207-212. Epub 2016 Nov 9.

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

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http://dx.doi.org/10.1002/ajmg.a.37962DOI Listing
January 2017

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

J Child Neurol 2016 12 12;31(14):1598-1601. Epub 2016 Sep 12.

Department of Pediatrics, Academic Medical Center, Amsterdam, the Netherlands

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http://dx.doi.org/10.1177/0883073816666474DOI Listing
December 2016

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Nat Genet 2016 09 25;48(9):1037-42. Epub 2016 Jul 25.

Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560030PMC
September 2016

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

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

Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome.

EBioMedicine 2016 Aug 12;10:77-84. Epub 2016 Jul 12.

Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, P.O. Box 22660, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2016.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006661PMC
August 2016

Somatic Variation of T-Cell Receptor Genes Strongly Associate with HLA Class Restriction.

PLoS One 2015 30;10(10):e0140815. Epub 2015 Oct 30.

Department of Clinical Immunology and Rheumatology, Laboratory for Experimental Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140815PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627806PMC
June 2016

V-akt murine thymoma viral oncogene homolog 3 (AKT3) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.

Acta Neuropathol Commun 2016 05 18;4(1):50. Epub 2016 May 18.

Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s40478-016-0320-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870776PMC
May 2016

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Genes Chromosomes Cancer 2016 Apr 22;55(4):350-4. Epub 2016 Jan 22.

Department of Pathology, Nijmegen Center for Molecular Life Sciences (NCMLS), Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/gcc.22338DOI Listing
April 2016

Complement activation at the motor end-plates in amyotrophic lateral sclerosis.

J Neuroinflammation 2016 Apr 7;13(1):72. Epub 2016 Apr 7.

Department of Neuropathology, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1186/s12974-016-0538-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823861PMC
April 2016

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

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Eur J Hum Genet 2015 Sep 24;23(9):1151-7. Epub 2014 Dec 24.

1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538208PMC
September 2015

Complement C1q-C3-associated synaptic changes in multiple sclerosis hippocampus.

Ann Neurol 2015 Jun 11;77(6):1007-26. Epub 2015 May 11.

Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.24398DOI Listing
June 2015

RELN rare variants in myoclonus-dystonia.

Mov Disord 2015 Mar 4;30(3):415-9. Epub 2015 Feb 4.

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

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http://dx.doi.org/10.1002/mds.26070DOI Listing
March 2015

Molecular classification of amyotrophic lateral sclerosis by unsupervised clustering of gene expression in motor cortex.

Neurobiol Dis 2015 Feb 10;74:359-76. Epub 2014 Dec 10.

Functional Genomics Center, Institute of Neurological Sciences, Italian National Research Council, Catania, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09699961140037
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http://dx.doi.org/10.1016/j.nbd.2014.12.002DOI Listing
February 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

Next-generation sequencing of microRNAs in primary human polarized macrophages.

Genom Data 2014 Dec 27;2:181-3. Epub 2014 Jun 27.

Department of Experimental Immunology, Sanquin Research, Landsteiner Laboratory, Center for Infectious Diseases and Immunity Amsterdam (CINIMA), Academic Medical Center of the University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.gdata.2014.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535945PMC
December 2014

c-Jun activation in Schwann cells protects against loss of sensory axons in inherited neuropathy.

Brain 2014 Nov 12;137(Pt 11):2922-37. Epub 2014 Sep 12.

1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK

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http://dx.doi.org/10.1093/brain/awu257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208468PMC
November 2014

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Hum Mol Genet 2014 Oct 15;23(19):5171-87. Epub 2014 May 15.

Department of Human Genetics Department of Neurology and Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA

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http://dx.doi.org/10.1093/hmg/ddu240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168306PMC
October 2014

Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors.

Acta Neuropathol 2014 Sep 17;128(3):439-48. Epub 2014 Apr 17.

Department of Genome Analysis, Academic Medical Center, Room K2-216, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s00401-014-1281-3DOI Listing
September 2014

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.

Hum Mol Genet 2014 Sep 8;23(18):5009-16. Epub 2014 May 8.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital.

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http://dx.doi.org/10.1093/hmg/ddu218DOI Listing
September 2014

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

DRD1 rare variants associated with tardive-like dystonia: a pilot pathway sequencing study in dystonia.

Parkinsonism Relat Disord 2014 Jul 13;20(7):782-5. Epub 2014 Apr 13.

Department of Neurology, University of Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.04.002DOI Listing
July 2014

Streptococcus pneumoniae arginine synthesis genes promote growth and virulence in pneumococcal meningitis.

J Infect Dis 2014 Jun 13;209(11):1781-91. Epub 2013 Dec 13.

Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), Academic Medical Center, P.O. Box 22660, Amsterdam 1100 DD, the Netherlands.

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http://dx.doi.org/10.1093/infdis/jit818DOI Listing
June 2014

Plasminogen activator inhibitor-1 influences cerebrovascular complications and death in pneumococcal meningitis.

Acta Neuropathol 2014 Apr 19;127(4):553-64. Epub 2013 Nov 19.

Department of Neurology, Academic Medical Center, Center of Infection and Immunity Amsterdam (CINIMA), University of Amsterdam, PO Box 22660, 1100 DD, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s00401-013-1216-4DOI Listing
April 2014

Inhibition of the membrane attack complex of the complement system reduces secondary neuroaxonal loss and promotes neurologic recovery after traumatic brain injury in mice.

J Immunol 2014 Mar 31;192(5):2339-48. Epub 2014 Jan 31.

Department of Genome Analysis, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.4049/jimmunol.1302793DOI Listing
March 2014

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Orphanet J Rare Dis 2014 Mar 19;9:38. Epub 2014 Mar 19.

Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1186/1750-1172-9-38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994927PMC
March 2014

Next-generation sequencing of microRNAs uncovers expression signatures in polarized macrophages.

Physiol Genomics 2014 Feb 10;46(3):91-103. Epub 2013 Dec 10.

Department of Experimental Immunology, Sanquin Research, Landsteiner Laboratory, and Center for Infectious Diseases and Immunity Amsterdam (CINIMA), Academic Medical Center of the University of Amsterdam, Amsterdam, The Netherlands;

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http://dx.doi.org/10.1152/physiolgenomics.00140.2013DOI Listing
February 2014

Genetic variation and cerebrospinal fluid levels of mannose binding lectin in pneumococcal meningitis patients.

PLoS One 2013 31;8(5):e65151. Epub 2013 May 31.

Department of Neurology, Academic Medical Center, Center of Infection and Immunity Amsterdam (CINIMA), Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0065151PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669246PMC
January 2014

Transcriptome sequencing (RNA-Seq) of human endobronchial biopsies: asthma versus controls.

Eur Respir J 2013 Sep 11;42(3):662-70. Epub 2013 Jan 11.

Dept of Respiratory Medicine, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1183/09031936.00115412DOI Listing
September 2013

Is TOR1A a risk factor in adult-onset primary torsion dystonia?

Mov Disord 2013 Jun 4;28(6):827-31. Epub 2013 Mar 4.

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

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http://dx.doi.org/10.1002/mds.25381DOI Listing
June 2013

Glucocorticoid-induced changes in gene expression of airway smooth muscle in patients with asthma.

Am J Respir Crit Care Med 2013 May;187(10):1076-84

Department of Respiratory Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1164/rccm.201210-1886OCDOI Listing
May 2013

Inhibition of endoplasmic reticulum associated degradation reduces endoplasmic reticulum stress and alters lysosomal morphology and distribution.

Mol Cells 2013 Apr 18;35(4):291-7. Epub 2013 Mar 18.

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

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http://dx.doi.org/10.1007/s10059-013-2286-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3887885PMC
April 2013

Cervical dystonia and genetic common variation in the dopamine pathway.

Parkinsonism Relat Disord 2013 Mar 14;19(3):346-9. Epub 2012 Sep 14.

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

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March 2013

Common polymorphisms in the complement system and susceptiblity to bacterial meningitis.

J Infect 2013 Mar 13;66(3):255-62. Epub 2012 Oct 13.

Department of Neurology, Center of Infection and Immunity Amsterdam-CINIMA, Academic Medical Center, University of Amsterdam, PO Box 22660, 1100DD Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.jinf.2012.10.008DOI Listing
March 2013

Genetic variation in inflammasome genes is associated with outcome in bacterial meningitis.

Immunogenetics 2013 Jan 30;65(1):9-16. Epub 2012 Sep 30.

Department of Neurology H2, Center of Infection and Immunity Amsterdam-CINIMA, Academic Medical Center, University of Amsterdam, P.O. Box 22660, 1100 DD Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00251-012-0653-xDOI Listing
January 2013

Hereditary neuropathy with liability to pressure palsies. Diagnosis in the first family (1947) confirmed.

J Peripher Nerv Syst 2012 Dec;17(4):412-3

Department of Neurology, Atrium Medical Centre, PO Box 4446, 6401 CX Heerlen, The Netherlands.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00440.xDOI Listing
December 2012

Genetic variation in the β2-adrenocepter gene is associated with susceptibility to bacterial meningitis in adults.

PLoS One 2012 18;7(5):e37618. Epub 2012 May 18.

Department of Neurology, Center of Infection and Immunity Amsterdam (CINIMA), University of Amsterdam, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356289PMC
September 2012

C3-dependent mechanism of microglial priming relevant to multiple sclerosis.

Proc Natl Acad Sci U S A 2012 Jan 4;109(3):965-70. Epub 2012 Jan 4.

Department of Infection, Immunity, and Biochemistry, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom.

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January 2012