Richard J Lemmers

Richard J L F Lemmers

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Richard J Lemmers

Richard J L F Lemmers

Publications by authors named "Richard J L F Lemmers"

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1PubMed Central Citations

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

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 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

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

Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1.

Methods Mol Biol 2017 ;1492:107-125

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

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http://dx.doi.org/10.1007/978-1-4939-6442-0_7DOI Listing
January 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

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

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
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000002217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691686PMC
December 2015

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

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

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands.

Neuromuscul Disord 2012 May 16;22(5):463-70. Epub 2011 Dec 16.

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

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http://dx.doi.org/10.1016/j.nmd.2011.09.004DOI Listing
May 2012

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

PLoS Genet 2010 Oct 28;6(10):e1001181. Epub 2010 Oct 28.

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.1001181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965761PMC
October 2010

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

Hum Mutat 2009 Oct;30(10):1449-59

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

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http://dx.doi.org/10.1002/humu.21091DOI Listing
October 2009

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.

Neuromuscul Disord 2008 Jul 30;18(7):579-82. Epub 2008 Jun 30.

Department of Clinical Neurosciences, Foothills Medical Centre, Heritage Medical Research Building, 182A-3330 Hospital Drive NW, Calgary, Alta., Canada T2N 4N1.

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http://dx.doi.org/10.1016/j.nmd.2008.03.011DOI Listing
July 2008

Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy.

Muscle Nerve 2008 Apr;37(4):526-9

Department of Pediatrics, Aberhart Centre 1, University of Alberta, Edmonton, AB, Canada.

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http://dx.doi.org/10.1002/mus.20941DOI Listing
April 2008

Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.

Hum Genet 2006 Mar 8;119(1-2):23-8. Epub 2005 Dec 8.

Departamento de Biologia, Human Genome Research Center, Universidade de São Paulo, Rua do Matão, 277 Cidade Universitária, CEP: 05508-090, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1007/s00439-005-0100-2DOI Listing
March 2006

Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.

Hum Genet 2005 Mar 12;116(4):262-6. Epub 2005 Jan 12.

Department of Neurology, Sofia Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s00439-004-1237-0DOI Listing
March 2005

Somatic mosaicism in FSHD often goes undetected.

Ann Neurol 2004 Jun;55(6):845-50

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

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http://dx.doi.org/10.1002/ana.20106DOI Listing
June 2004

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.

Nat Genet 2002 Oct 23;32(2):235-6. Epub 2002 Sep 23.

Department of Human Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands.

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http://www.nature.com/articles/ng999
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http://dx.doi.org/10.1038/ng999DOI Listing
October 2002