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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
Rev Biol Trop. 2008 Mar;56(1):1-11. doi: 10.15517/rbt.v56i1.5505.
Rev Biol Trop. 2008.
PMID: 18624224
Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.
Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
Morales F, et al. Among authors: sittenfeld m.
Hum Genet. 2007 Nov;122(3-4):413. doi: 10.1007/s00439-007-0411-6.
Hum Genet. 2007.
PMID: 17717708
No abstract available.
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Gene symbol: CLCN1. Disease: Myotonia congenita.
Morales F, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.
Morales F, et al. Among authors: sittenfeld m.
Hum Genet. 2008 Feb;123(1):104-5.
Hum Genet. 2008.
PMID: 18386321
No abstract available.
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Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.
Morales F, Vásquez M, Cuenca P, Campos D, Santamaría C, Del Valle G, Brian R, Sittenfeld M, Monckton DG.
Morales F, et al. Among authors: sittenfeld m.
Eur J Hum Genet. 2015 May;23(5):646-53. doi: 10.1038/ejhg.2014.138. Epub 2014 Jul 23.
Eur J Hum Genet. 2015.
PMID: 25052313
Free PMC article.
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[Intergenerational study of the mutation that causes Myotonic Dystrophy Type 1 in Costa Rica].
Morales Montero F, Cuenca Berger P, Brian Gago R, Sittenfeld M, del Valle G.
Morales Montero F, et al. Among authors: sittenfeld m.
Rev Neurol. 2003 Jan 1-15;36(1):20-5.
Rev Neurol. 2003.
PMID: 12577208
Free article.
Spanish.
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Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.
Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG.
Morales F, et al. Among authors: sittenfeld m.
Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16.
Hum Mol Genet. 2012.
PMID: 22595968
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Physiology of perception: cortical stimulation and recording in humans.
Ray PG, Meador KJ, Smith JR, Wheless JW, Sittenfeld M, Clifton GL.
Ray PG, et al. Among authors: sittenfeld m.
Neurology. 1999 Mar 23;52(5):1044-9. doi: 10.1212/wnl.52.5.1044.
Neurology. 1999.
PMID: 10102426
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