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Auteur van der Maarel SM |
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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
Bouwman LF, den Hamer B, Verveer EP, et al.
Skeletal Muscle, 2020, 10, 1, p 27
Revue : Skeletal Muscle, 10, 1 Titre : Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice Type de document : Article Auteurs : Bouwman LF ; den Hamer B ; Verveer EP ; Lerink LJS ; Krom YD ; van der Maarel SM ; de Greef JC Année de publication : 01/10/2020 Pages : p 27 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33004076 / DOI : 10.1186/s13395-020-00247-0
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33004076 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
Hamanaka K, Sikrova D, Mitsuhashi S, et al.
Neurology, 2020, 94, 23
Revue : Neurology, 94, 23 Titre : Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy Type de document : Article Auteurs : Hamanaka K ; Sikrova D ; Mitsuhashi S ; Masuda H ; Sekiguchi Y ; Sugiyama A ; Shibuya K ; Lemmers RJLF ; Goossens R ; Ogawa M ; Nagao K ; Obuse C ; Noguchi S ; Hayashi YK ; Kuwabara S ; Balog J ; Nishino I ; van der Maarel SM Editeur : United States Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32467133 / DOI : 10.1212/WNL.0000000000009617
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32467133 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy
Lassche S, Voermans NC, van der Pijl R, et al.
Neurology, 2020, 94, 11, p e1157
Revue : Neurology, 94, 11 Titre : Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy Type de document : Article Auteurs : Lassche S ; Voermans NC ; van der Pijl R ; van den Berg M ; Heerschap A ; van Hees H ; Küsters B ; van der Maarel SM ; Ottenheijm CAC ; van Engelen BGM Editeur : United States Année de publication : 17/03/2020 Pages : p e1157 Langues : Anglais (eng) Mots-clés : dystrophie musculaire ; dystrophie musculaire facio-scapulo-humérale ; étude cas-témoins ; maladie neuromusculaire ; physiologie musculaire Pubmed / DOI : Pubmed : 31964688 / DOI : 10.1212/WNL.0000000000008977
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31964688 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy
Greco A, Goossens R, van Engelen B, et al.
Clinical genetics, 2020
Revue : Clinical genetics Titre : Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy Type de document : Article Auteurs : Greco A, Auteur ; Goossens R ; van Engelen B ; van der Maarel SM Editeur : Denmark Année de publication : 02/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32086799 / DOI : 10.1111/cge.13726
N° Profil MNM : 2020022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32086799 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Ophthalmological findings in facioscapulohumeral dystrophy
Goselink RJM, Schreur V, van Kernebeek CR, et al.
Brain communications, 2020, 1, 1
Revue : Brain communications, 1, 1 Titre : Ophthalmological findings in facioscapulohumeral dystrophy Type de document : Article Auteurs : Goselink RJM ; Schreur V ; van Kernebeek CR ; Padberg GW ; van der Maarel SM ; van Engelen BGM ; Erasmus CE ; Theelen T Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32954265 / DOI : 10.1093/braincomms/fcz023
N° Profil MNM : 2020092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32954265 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy
Bouwman LF, van der Maarel SM, de Greef JC
Current opinion in neurology, 2020, 33, 5, p 635
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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study
Peterlin B, Gualandi F, Maver A, et al.
PLoS ONE, 2020, 15, 9
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MRI Correlates with Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy
Hamel J, Lee P, Glenn MD, et al.
Muscle & Nerve, 2019
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DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD
Shadle SC, Bennett SR, Wong CJ, et al.
Human molecular genetics, 2019
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Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients
van der Wal E, den Hamer B, van der Vliet PJ, et al.
Stem cell research, 2019, 40
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Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Voermans NC, van der Bilt RC, IJspeert J, et al.
Journal of neurology, 2019
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A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Wohlgemuth M, Lemmers RJ, Jonker M, et al.
Neurology, 2019, 91, 5
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SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, et al.
Journal of medical genetics, 2019
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FSHD1 and FSHD2 form a disease continuum
Sacconi S, Briand-Suleau A, Gros M, et al.
Neurology, 2019, 92, 19
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Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy
Goselink RJM, Goselink RJM, Mul K, et al.
Neurology, 2019, 92, 4
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A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1.
Wohlgemuth M, Lemmers RJ, Jonker M, et al.
Neurology, 2018, 91, 5, p. 444-454
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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Mul K, Mul K, Lemmers RJLF, et al.
Neurology, 2018
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Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures
Lim JW, Wong CJ, Yao Z, et al.
Human molecular genetics, 2018
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A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy
Goselink RJM, van Kernebeek CR, Mul K, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2018
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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
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Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study
Goselink RJM, Goselink RJM, Schreuder THA, et al.
Annals of neurology, 2018, 84, 5, p 627
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Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies
Verschuuren JJGM, Plomp JJ, Burden SJ, et al.
Annals of the New York Academy of Sciences, 2018, 1413, 1, p 111
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Phenotype-genotype relations in facioscapulohumeral muscular dystrophy type 1
Mul K, Mul K, Voermans NC, et al.
Clinical genetics, 2018, 94, 6, p 521
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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Lemmers RJ, van der Vliet PJ, Balog J, et al.
European journal of human genetics : EJHG, 2018, 26, 1, p 94
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Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2
Lemmers RJLF, van der Vliet PJ, Vreijling JP, et al.
Human molecular genetics, 2018, 27, 20, p 3488
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