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Year | Number of Results |
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2013 | 1 |
2014 | 2 |
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2024 | 0 |
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Page 1
Restrictive lung involvement in facioscapulohumeral muscular dystrophy.
Muscle Nerve. 2014 Nov;50(5):739-43. doi: 10.1002/mus.24218. Epub 2014 Sep 29.
Muscle Nerve. 2014.
PMID: 24639337
Free PMC article.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Balog J, Goossens R, Lemmers RJLF, Straasheijm KR, van der Vliet PJ, Heuvel AVD, Cambieri C, Capet N, Feasson L, Manel V, Contet J, Kriek M, Donlin-Smith CM, Ruivenkamp CAL, Heard P, Tapscott SJ, Cody JD, Tawil R, Sacconi S, van der Maarel SM.
Balog J, et al. Among authors: donlin smith cm.
J Med Genet. 2018 Jul;55(7):469-478. doi: 10.1136/jmedgenet-2017-105153. Epub 2018 Mar 21.
J Med Genet. 2018.
PMID: 29563141
Free PMC article.
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Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.
Statland JM, Donlin-Smith CM, Tapscott SJ, Lemmers RJ, van der Maarel SM, Tawil R.
Statland JM, et al. Among authors: donlin smith cm.
Neurology. 2015 Dec 15;85(24):2147-50. doi: 10.1212/WNL.0000000000002217. Epub 2015 Nov 11.
Neurology. 2015.
PMID: 26561289
Free PMC article.
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Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.
Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R.
Statland J, et al. Among authors: donlin smith cm.
J Neuromuscul Dis. 2014;1(2):181-190. doi: 10.3233/JND-140034.
J Neuromuscul Dis. 2014.
PMID: 25705588
Free PMC article.
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Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM.
Lemmers RJ, et al. Among authors: donlin smith cm.
Hum Mutat. 2015 Jul;36(7):679-83. doi: 10.1002/humu.22792. Epub 2015 May 20.
Hum Mutat. 2015.
PMID: 25820463
Free PMC article.
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Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size.
Statland JM, Sacconi S, Farmakidis C, Donlin-Smith CM, Chung M, Tawil R.
Statland JM, et al. Among authors: donlin smith cm.
Neurology. 2013 Mar 26;80(13):1247-50. doi: 10.1212/WNL.0b013e3182897116. Epub 2013 Feb 27.
Neurology. 2013.
PMID: 23446679
Free PMC article.
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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, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
Lemmers RJ, et al. Among authors: donlin smith cm.
Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.
Nat Genet. 2012.
PMID: 23143600
Free PMC article.
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