Publications by authors named "Silvere M van der Maarel"

100Publications

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice.

Skelet Muscle 2020 10 1;10(1):27. Epub 2020 Oct 1.

Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands.

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http://dx.doi.org/10.1186/s13395-020-00247-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528343PMC
October 2020

Ophthalmological findings in facioscapulohumeral dystrophy.

Brain Commun 2019 11;1(1):fcz023. Epub 2019 Oct 11.

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen HB, The Netherlands.

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http://dx.doi.org/10.1093/braincomms/fcz023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425335PMC
October 2019

The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy.

Curr Opin Neurol 2020 Oct;33(5):635-640

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

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http://dx.doi.org/10.1097/WCO.0000000000000849DOI Listing
October 2020

Homozygous nonsense variant in associated with facioscapulohumeral muscular dystrophy.

Neurology 2020 06 28;94(23):e2441-e2447. Epub 2020 May 28.

From the Department of Neuromuscular Research (K.H., S.M., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neurology (K.H.), Graduate School of Medicine, Kyoto University, Japan; Department of Human Genetics (D.Š., R.J.L.F.L., R.G., J.B., S.M.M.), Leiden University Medical Center, the Netherlands; Department of Clinical Development (S.M., I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo; Department of Neurology (H.M., Y.S., A.S., K.S., S.K.), Graduate School of Medicine, Chiba University; Department of Biological Sciences (K.N., C.O.), Graduate School of Science, Osaka University; and Department of Pathophysiology (Y.K.H.), Tokyo Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000009617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455367PMC
June 2020

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy.

Clin Genet 2020 06 4;97(6):799-814. Epub 2020 Mar 4.

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

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http://dx.doi.org/10.1111/cge.13726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318180PMC
June 2020

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.

Neurology 2020 03 21;94(11):e1157-e1170. Epub 2020 Jan 21.

From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour (S.L., N.C.V., B.G.M.v.E.), Department of Radiology (A.H.), and Department of Pulmonary Diseases (H.V.H.), Radboud University Medical Center, Nijmegen; Department of Physiology (S.L., R.v.d.P., M.v.d.B., C.A.C.O.) and Department of Pathology, Institute for Cardiovascular Research (B.K.), Amsterdam University Medical Center, the Netherlands; Department of Cellular and Molecular Medicine (R.v.d.P., C.A.C.O.), University of Arizona, Tucson; and Department of Human Genetics (S.M.v.d.M.), Leiden University Medical Centre, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000008977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220237PMC
March 2020

Multiscale 3D-printing of microfluidic AFM cantilevers.

Lab Chip 2020 01 6;20(2):311-319. Epub 2019 Dec 6.

Department of Precision and Microsystems Engineering (PME), Faculty of Mechanical, Maritime, and Materials Engineering (3mE), Delft University of Technology, Mekelweg 2, 2628CD Delft, The Netherlands.

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http://dx.doi.org/10.1039/c9lc00668kDOI Listing
January 2020

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression.

Cell Rep 2019 11;29(7):1812-1820.e5

Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.10.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6886682PMC
November 2019

A functional assay to classify ZBTB24 missense variants of unknown significance.

Hum Mutat 2019 08 18;40(8):1077-1083. Epub 2019 Jun 18.

Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.23786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771626PMC
August 2019

FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 05 12;92(19):e2273-e2285. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537132PMC
May 2019

MuSK myasthenia gravis monoclonal antibodies: Valency dictates pathogenicity.

Neurol Neuroimmunol Neuroinflamm 2019 05 21;6(3):e547. Epub 2019 Feb 21.

Department of Neurology (M.G.H., Y.E.F.-G., I.E.v.E., J.J.P., J.J.V.), Department of Human Genetics (M.G.H., D.L.V., Y.F.-G., I.E.v.E., S.M.v.d.M.), Department of Hematology (M.T.K., H.V.), and Department of Rheumatology (L.M.S.), Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1212/NXI.0000000000000547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410930PMC
May 2019

Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy.

Neurology 2019 01 19;92(4):e378-e385. Epub 2018 Dec 19.

From the Department of Neurology (R.J.M.G., K.M., C.R.v.K., T.H.A.S., C.E.E., G.W.P., N.C.V., B.G.M.v.E.), Donders Center for Neuroscience, Radboud University Medical Center, Nijmegen; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; and Department of Neurology (J.M.S.), Kansas University Medical Center, Kansas City.

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http://dx.doi.org/10.1212/WNL.0000000000006819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345117PMC
January 2019

Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1.

Clin Genet 2018 12 8;94(6):521-527. Epub 2018 Oct 8.

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/10.1111/cge.13446DOI Listing
December 2018

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.

Neurology 2018 07 11;91(5):e444-e454. Epub 2018 Jul 11.

From the Department of Neurology (M.W., C.G.H., B.G.v.E., G.W.P., N.C.V.), Donders Institute for Brain, Cognition and Behavior, and Radboud Institute for Health Sciences (M.J.), Radboud University Medical Center, Nijmegen; Department of Neurology (M.W.), ETZ, Tilburg; Department of Human Genetics (R.J.L., S.M.v.d.M.), Leiden University Medical Center; and Department of Neurology (E.v.d.K.), MCL, Leeuwarden, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000005915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093768PMC
July 2018

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Neurology 2018 08 6;91(6):e562-e570. Epub 2018 Jul 6.

From the Department of Neurology (K.M., N.C.V., B.G.M.v.E., C.G.C.H.), Radboud University Medical Center, Nijmegen; Departments of Human Genetics (R.J.L.F.L., P.J.v.d.V., M.L.v.d.B., S.M.v.d.M.), Clinical Genetics (M.K.), and Neurology (U.A.B.), Leiden University Medical Center, Leiden, the Netherlands; Department of Pediatrics (J.M.G.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Medical Genetics (A.E.L.), MassGeneral Hospital for Children, Boston, MA; Center for Genomic Medicine and Department of Neurology (H.B.), Massachusetts General Hospital, Boston; Department of Pathology (S.A.M.), University of Iowa Hospitals and Clinics, Iowa City; The John Walton Muscular Dystrophy Research Centre (K.J., T.E., A.T., V.S.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Neuromuscular Consult Unit (S.K.G.), Bilbo-Basurtu Erakunde Sanitario Integratua, Organización Sanitaria Integrada Bilbao-Basurto, Spain; Centre de Référence des Maladies Neuromusculaires (S.S.), Nice, France; Department of Neurology (R.T.), University of Rochester Medical Center, NY; Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and National Institute of Environmental Health Sciences (N.D.S.), Research Triangle Park, NC.

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http://dx.doi.org/10.1212/WNL.0000000000005958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105048PMC
August 2018

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.

Eur J Paediatr Neurol 2018 Sep 3;22(5):782-785. Epub 2018 May 3.

Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2018.04.013DOI Listing
September 2018

IgG4-mediated autoimmune diseases: a niche of antibody-mediated disorders.

Ann N Y Acad Sci 2018 02 28;1413(1):92-103. Epub 2018 Jan 28.

Departments of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.

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http://dx.doi.org/10.1111/nyas.13561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801142PMC
February 2018

Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies.

Ann N Y Acad Sci 2018 02 21;1413(1):111-118. Epub 2018 Jan 21.

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

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http://dx.doi.org/10.1111/nyas.13543DOI Listing
February 2018

Adding quantitative muscle MRI to the FSHD clinical trial toolbox.

Neurology 2017 Nov 13;89(20):2057-2065. Epub 2017 Oct 13.

From the Department of Neurology (K.M., S.C.C.V., N.C.V., G.W.P., C.G.C.H., B.G.M.v.E.), Radboud University Medical Center, Nijmegen; and Department of Human Genetics (R.J.L.F.L., P.J.v.d.V., S.M.v.d.M.), Leiden University Medical Center, the Netherlands.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5711504PMC
November 2017

IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients.

J Autoimmun 2017 02 10;77:104-115. Epub 2016 Dec 10.

Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience, Maastricht University, Universiteitssingel 50, 6229 ER Maastricht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2016.11.005DOI Listing
February 2017

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis.

J Cell Sci 2016 10;129(20):3816-3831

Randall Division of Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine, New Hunt's House, King's College London, Guy's Campus, London SE1 1UL, UK

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http://dx.doi.org/10.1242/jcs.180372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087662PMC
October 2016

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.

Hum Mol Genet 2016 09 27;25(18):4041-4051. Epub 2016 Jul 27.

Department of Human Genetics, Leiden University Medical Centre, Leiden 2300RC, The Netherlands,

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http://dx.doi.org/10.1093/hmg/ddw243DOI Listing
September 2016

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.

Curr Opin Neurol 2016 10;29(5):606-13

aDepartment of Neurology, Radboud University Medical Center, Nijmegen bDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1097/WCO.0000000000000360DOI Listing
October 2016

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

J Med Genet 2016 05 1;53(5):348-55. Epub 2016 Feb 1.

Institute of Cell Biology and Neurobiology, National Research Council of Italy, Monterotondo (Rome), Italy.

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http://dx.doi.org/10.1136/jmedgenet-2015-103436DOI Listing
May 2016

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York.

Neuromuscul Disord 2016 Feb 9;26(2):181-6. Epub 2015 Nov 9.

Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

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http://dx.doi.org/10.1016/j.nmd.2015.10.005DOI Listing
February 2016

Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9.

Skelet Muscle 2015 10;5:37. Epub 2015 Nov 10.

Department of Human Genetics, Leiden University Medical Center, Building 2, Room R3-17, Einthovenweg 20, 2333 ZC Leiden, The Netherlands.

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http://dx.doi.org/10.1186/s13395-015-0064-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641337PMC
November 2015

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

Neurology 2015 Dec 11;85(24):2147-50. Epub 2015 Nov 11.

From the Department of Neurology (J.M.S.), University of Kansas Medical Center, Kansas City; the Department of Neurology (C.M.D., R.T.), University of Rochester Medical Center, NY; the Division of Human Biology (S.J.T.), Fred Hutchinson Cancer Research Center, Seattle, WA; and the Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands.

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http://www.neurology.org/content/85/24/2147.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000221
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http://dx.doi.org/10.1212/WNL.0000000000002217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691686PMC
December 2015

Genetic and epigenetic contributors to FSHD.

Curr Opin Genet Dev 2015 Aug 7;33:56-61. Epub 2015 Sep 7.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674299PMC
August 2015

Camelid heavy chain only antibody fragment domain against β-site of amyloid precursor protein cleaving enzyme 1 inhibits β-secretase activity in vitro and in vivo.

FEBS J 2015 Sep 22;282(18):3618-31. Epub 2015 Jul 22.

Biomolecular Imaging Group, Division of Cell Biology, Department of Biology, Faculty of Science, Utrecht University, The Netherlands.

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http://dx.doi.org/10.1111/febs.13367DOI Listing
September 2015

Fusion of hIgG1-Fc to 111In-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake.

Nucl Med Biol 2015 Aug 18;42(8):695-702. Epub 2015 Mar 18.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nucmedbio.2015.03.003DOI Listing
August 2015

Enhanced glutathione PEGylated liposomal brain delivery of an anti-amyloid single domain antibody fragment in a mouse model for Alzheimer's disease.

J Control Release 2015 Apr 7;203:40-50. Epub 2015 Feb 7.

Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; Department of Radiology (Molecular Imaging Laboratories Leiden & Nuclear Medicine), Leiden University Medical Center, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jconrel.2015.02.012DOI Listing
April 2015

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.

Elife 2015 Jan 7;4. Epub 2015 Jan 7.

Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, United States.

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http://dx.doi.org/10.7554/eLife.04996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383350PMC
January 2015

Selection and characterization of llama single domain antibodies against N-terminal huntingtin.

Neurol Sci 2015 Mar 8;36(3):429-34. Epub 2014 Oct 8.

Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10072-014-1971-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341019PMC
March 2015

Population-based incidence and prevalence of facioscapulohumeral dystrophy.

Neurology 2014 Sep 13;83(12):1056-9. Epub 2014 Aug 13.

From the Department of Neurology (J.C.W.D., H.A., G.W.P., B.G.M.v.E.) and Department for Health Evidence (A.L.M.V.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Human Genetics (S.M.v.d.M.), Department of Neurology (J.J.G.M.V.), and Department of Clinical Genetics (E.B.), Leiden University Medical Center, Leiden, the Netherlands; and VU University Medical Center (S.S.W.), Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000797DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166358PMC
September 2014

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Skelet Muscle 2014 10;4:12. Epub 2014 Jun 10.

Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA ; Department of Neurology, University of Washington, Seattle, WA 98105, USA ; Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, Seattle, WA 98109, USA.

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http://skeletalmusclejournal.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/2044-5040-4-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060068PMC
June 2014

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.

Hum Mol Genet 2014 Oct 26;23(20):5342-52. Epub 2014 May 26.

Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle WA 98109, USA Department of Neurology, University of Washington, Seattle, WA 98105, USA

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http://dx.doi.org/10.1093/hmg/ddu251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168822PMC
October 2014

Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs.

Hum Mutat 2014 Aug 24;35(8):998-1010. Epub 2014 Jun 24.

Department of Biological Chemistry, School of Medicine, University of California, Irvine, California; Department of Developmental and Cell Biology, School of Biological Sciences, University of California, Irvine, California.

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http://dx.doi.org/10.1002/humu.22593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489691PMC
August 2014

A novel feed-forward loop between ARIH2 E3-ligase and PABPN1 regulates aging-associated muscle degeneration.

Am J Pathol 2014 Apr 30;184(4):1119-1131. Epub 2014 Jan 30.

Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ajpath.2013.12.011DOI Listing
April 2014

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix.

Eur J Hum Genet 2014 Sep 22;22(9):1117-23. Epub 2014 Jan 22.

1] UMR 8126, Université Paris Sud, CNRS, Institut de cancérologie Gustave Roussy, Villejuif, France [2] LIA 1066, Laboratoire Franco-Russe de recherche en oncologie, Villejuif, France [3] NK Koltsov Institute of Developmental Biology, RAS, Moscow, Russia.

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http://dx.doi.org/10.1038/ejhg.2013.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135416PMC
September 2014

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy.

Skelet Muscle 2014 24;4:19. Epub 2014 Oct 24.

Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, Leiden 2333 ZA, The Netherlands.

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http://dx.doi.org/10.1186/2044-5040-4-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364343PMC
March 2015

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.

Proc Natl Acad Sci U S A 2013 Dec 2;110(51):20783-8. Epub 2013 Dec 2.

Department of Neurology, Department of Human Genetics and Department of Molecular Cell Biology, Leiden University Medical Center, 2333 ZA, Leiden, The Netherlands.

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http://dx.doi.org/10.1073/pnas.1313944110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870730PMC
December 2013

DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.

PLoS Genet 2013 Nov 21;9(11):e1003947. Epub 2013 Nov 21.

Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3836709PMC
November 2013

Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome.

Hum Immunol 2013 Jul 10;74(7):849-51. Epub 2013 Apr 10.

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

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http://dx.doi.org/10.1016/j.humimm.2013.03.004DOI Listing
July 2013

Dysferlin regulates cell adhesion in human monocytes.

J Biol Chem 2013 May 4;288(20):14147-57. Epub 2013 Apr 4.

Departments of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M112.448589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656271PMC
May 2013

Pathogenic IgG4 subclass autoantibodies in MuSK myasthenia gravis.

Ann N Y Acad Sci 2012 Dec;1275:114-22

Department of Neurology, Medical Genetics Center, Leiden University Medical Center, Leiden, the Netherlands.

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http://doi.wiley.com/10.1111/j.1749-6632.2012.06808.x
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http://dx.doi.org/10.1111/j.1749-6632.2012.06808.xDOI Listing
December 2012

A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells.

BMC Neurosci 2012 Oct 3;13:118. Epub 2012 Oct 3.

Division of Medical Pharmacology, Leiden/Amsterdam Center for Drug Research, Leiden University Medical Center, Leiden, 2333 CC, The Netherlands.

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http://dx.doi.org/10.1186/1471-2202-13-118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519639PMC
October 2012

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.

Curr Opin Neurol 2012 Oct;25(5):614-20

Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.

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http://dx.doi.org/10.1097/WCO.0b013e328357f22dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653067PMC
October 2012

Selection of VHH antibody fragments that recognize different Aβ depositions using complex immune libraries.

Methods Mol Biol 2012 ;911:241-53

Department of Human and Clinical Genetics, Medical Genetics Center, Leiden University Medical Center, Leiden, The Netherlands.

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http://link.springer.com/10.1007/978-1-61779-968-6_15
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http://dx.doi.org/10.1007/978-1-61779-968-6_15DOI Listing
December 2012