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Auteur Lemmers RJ |
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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
Revue : Neurology, 91, 5 Titre : A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1 Type de document : Article Auteurs : Wohlgemuth M, Auteur ; Lemmers RJ ; Jonker M ; van der Kooi E ; Horlings CG ; van Engelen BG ; van der Maarel SM ; Padberg GW ; Voermans NC Année de publication : 31/07/2019 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1212/WNL.0000000000005915 / Pubmed : 29997197
N° Profil MNM : 2019033 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29997197 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neurology, 91, 5 Titre : A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Type de document : Article Auteurs : Wohlgemuth M, Auteur ; Lemmers RJ, Auteur ; Jonker M, Auteur ; van der Kooi E, Auteur ; Horlings CG, Auteur ; van Engelen BG, Auteur ; van der Maarel SM, Auteur ; Padberg GW, Auteur ; Voermans NC, Auteur Année de publication : 31/08/2018 Pages : p. 444-454 Langues : Anglais (eng) Mots-clés : dystrophie musculaire facio-scapulo-humérale ; étude observationnelle ; génotype ; ophtalmologie ; phénotype ; rétine ; tomographie ; tomographie en cohérence optique Résumé : OBJECTIVE: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype-genotype correlations...
Disputes & Debates: Rapid online correspondence (Published August 15, 2018)
>>> Retinal vascular abnormalities as manifestation of facioscapulohumeral dystrophy
Tuy Nga Brignol, MD, Ophthalmologist, Medical Affairs Department, The French Muscular Dystrophy Association (AFM-Telethon) (Evry, France)
Other Contributors: J. Andoni Urtizberea, MD, Clinical Myologist/Deputy Coordinator of the French Neuromuscular Network, Hôpital Marin, APHP (Hendaye, France)/FILNEMUS (Marseille, France)
We read with interest the article reporting on facioscapulohumeral muscular dystrophy type 1 (FSHD1) probands and their relatives. Penetrance of FSHD, based on muscle symptoms, depends on D4Z4 repeat size and continues to increase in adulthood. [1] It would be interesting to study the penetrance of retinal vasculopathy in this family, by using optical coherence tomography angiography (OCT-A), a noninvasive imaging technique that acquires volumetric angiographic information without the use of a dye. Indeed, according to the existing literature, only a systematic examination of eye fundus can detect telangiectasia and aneurysms, which may be present early in life before evidence of muscle disease. [2] Very few complaints related to retinal alteration have been reported by patients with FSHD, as retinal lesions rarely affect the macula. A more severe retinal vasculopathy, known as Coats-like retinopathy, is observed by fluorescein angiography in 40% to 75% of patients with FSHD. However, retinal findings prior to the diagnosis of FSHD is only detected in very rare cases. [3-5]
In lieu of this data, we believe that interdisciplinary collaborations between neurologists and ophthalmologists are important—not only for diagnostic and counselling viewpoints, but also to better understand the relation between genotype and phenotype, and mechanisms that regulate expression.
[1] Wohlgemuth M, Lemmers RJ, Jonker M, et al. A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1. Neurology 2018;91:e444-e454.
[2] Fitzsimons RB, Gurwin EB, Bird AC. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain 1987;110:631-648.
[3] Vance SK, Wald KJ, Sherman J, Freund KB. Subclinical facioscapulohumeral muscular dystrophy masquerading as bilateral Coats disease in a woman. Arch Ophthalmol 2011;129:807-809.
[4] Shields CL, Zahler J, Falk N, et al. Neovascular glaucoma from advanced Coats disease as the initial manifestation of facioscapulohumeral dystrophy in a 2-year-old child. Arch Ophthalmol 2007;125:840-842.
[5] Ganesh A, Kaliki S, Shields CL. Coats-like retinopathy in an infant with preclinical facioscapulohumeral dystrophy. J AAPOS 2012;16:204-206.
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>>> Author response to Drs. Brignol & Urtizberea (Published August 29, 2018)
Nicol C. Voermans, Neurologist, Radboud University Medical Centre (Nijmegen, Netherlands)
Other Contributors: Rianne J. Goselink, Neurologist Trainee, Radboud University Medical Centre (Nijmegen, Netherlands)
We thank Drs. Brignol and Urtizberea for the comment on our article. [1] We fully agree that retinal abnormalities are an interesting additional mode to study the penetrance of facioscapulohumeral dystrophy (FSHD). Indeed, we are currently performing an observational study on retinal abnormalities in another cohort of patients with FSHD. We acknowledge that a family-based approach would offer additional insights. Also, we fully agree that interdisciplinary collaborations enhance our understanding of the pathophysiology and optimal care for patients.Lien associé : lien vers l'article sur la revue Neurology Pubmed / DOI : DOI : 10.1212/WNL.0000000000005915 / Pubmed : 29997197
N° Profil MNM : 2018072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29997197 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : European journal of human genetics : EJHG, 26, 1 Titre : Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2. Type de document : Article Auteurs : Lemmers RJ, Auteur ; van der Vliet PJ ; Balog J ; Goeman JJ ; Arindrarto W ; Krom YD ; Straasheijm KR ; Debipersad RD ; Özel G ; Sowden J ; Snider L ; Mul K ; Sacconi S ; van Engelen B ; Tapscott SJ ; Tawil R ; van der Maarel SM Année de publication : 2018 Pages : p 94 Langues : Anglais (eng) Mots-clés : dystrophie musculaire facio-scapulo-humérale ; dystrophie musculaire facio-scapulo-humérale de type 2 ; expression génique ; gène DUX4 ; muscle squelettique ; protéine DUX4 ; région D4Z4 Pubmed / DOI : DOI : 10.1038/s41431-017-0015-0 / Pubmed : 29162933
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29162933 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
van den Boogaard ML, Lemmers RJ, Balog J, et al.
American journal of human genetics, 2016, 98, 5, p 1020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
Goselink RJ, Schreuder TH, Mul K, et al.
BMC neurology, 2016, 16, 138
Revue : BMC neurology, 16, 138 Titre : Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD) Type de document : Article Auteurs : Goselink RJ, Auteur ; Schreuder TH ; Mul K ; Voermans NC ; Pelsma M ; de Groot IJ ; van Alfen N ; Franck B ; Theelen T ; Lemmers RJ ; Mah JK ; van der Maarel SM ; van Engelen BG ; Erasmus CE Année de publication : 2016 Langues : Anglais (eng) Mots-clés : adolescent ; début précoce de la maladie ; degré de sévérité ; dystrophie musculaire facio-scapulo-humérale ; enfant ; étude de cohorte ; étude observationnelle ; étude prospective ; histoire naturelle de la maladie ; METHODOLOGIE ; MFM (Mesure de la fonction motrice) ; Pays-Bas ; pronostic Pubmed / DOI : DOI : 10.1186/s12883-016-0664-6 / Pubmed : 27530735
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/27530735 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Calandra P, Cascino I, Lemmers RJ, et al.
Journal of medical genetics, 2016, 53, 5, p 348
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Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
Balog J, Thijssen PE, Shadle S, et al.
Epigenetics, 2015, 10, 12, p 1133
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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Lemmers RJ, Goeman JJ, van der Vliet PJ, et al.
Human molecular genetics, 2015, 24, 3, p 659
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Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features.
Dorobek M, van der Maarel SM, Lemmers RJ, et al.
Journal of child neurology, 2014, Epub
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DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle
Yao Z, Snider L, Balog J, et al.
Human molecular genetics, 2014, 23, 20, p 5342
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A focal domain of extreme demethylation within D4Z4 in FSHD2
Hartweck LM, Anderson LJ, Lemmers RJ, et al.
Neurology, 2013, 80, 4, p. 392-399
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers RJ, Tawil R, Petek LM, et al.
Nature genetics, 2012, 44, 12, p. 1370-1374
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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
Lemmers RJ, van Engelen BGM, Sacconi S, et al.
Human mutation, 2009, 30, 10, p. 1449-1459
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