Indexed keywords
MYOTONIC DYSTROPHY PROTEIN KINASE;
REPETITIVE DNA;
ZINC FINGER PROTEIN;
3' UNTRANSLATED REGION;
CHROMOSOME 19Q;
CHROMOSOME 3Q;
CHROMOSOME MUTATION;
EDITORIAL;
GENOTYPE PHENOTYPE CORRELATION;
HAPLOTYPE;
HUMAN;
INTRON;
MUSCLE ATROPHY;
MUSCLE WEAKNESS;
MYOTONIC DYSTROPHY;
MYOTONIC DYSTROPHY TYPE 1;
MYOTONIC DYSTROPHY TYPE 2;
NUCLEOTIDE SEQUENCE;
PHENOTYPE;
PRIORITY JOURNAL;
SEQUENCE ANALYSIS;
SOMATIC MUTATION;
CLASSIFICATION;
GENETIC PREDISPOSITION;
GENETIC SCREENING;
GENETICS;
METHODOLOGY;
NOTE;
NUCLEOTIDE REPEAT;
SINGLE NUCLEOTIDE POLYMORPHISM;
GENETIC PREDISPOSITION TO DISEASE;
GENETIC SCREENING;
HUMANS;
MYOTONIC DYSTROPHY;
POLYMORPHISM, SINGLE NUCLEOTIDE;
REPETITIVE SEQUENCES, NUCLEIC ACID;
1
33749261633
Myotonic dystrophies type 1 and 2: A summary on current aspects
Schoser B, Schara U. Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 2006; 13:71-79.
(2006)
Semin Pediatr Neurol , vol.13
, pp. 71-79
Schoser, B.1
Schara, U.2
2
0035800434
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
(2001)
Science , vol.293
, pp. 864-867
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
3
59849120586
Myotonic dystrophies: An overview
Ashizawa T, Wells RD, eds, 2nd edition. Burlington, MA: Elsevier;
Ashizawa T, Harper PS. Myotonic dystrophies: an overview. In: Ashizawa T, Wells RD, eds. Genetic Instabilities and Neurological Disorders. 2nd edition. Burlington, MA: Elsevier; 2006:21-35.
(2006)
Genetic Instabilities and Neurological Disorders , pp. 21-35
Ashizawa, T.1
Harper, P.S.2
4
15044354661
RNA pathogenesis of the myotonic dystrophies
Day LW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscul Disord 2005; 15:5-16.
(2005)
Neuromuscul Disord , vol.15
, pp. 5-16
Day, L.W.1
Ranum, L.P.2
5
0142027590
Confirmation of DM2 (CCTG)n expansion mutation in PROMM/PDM patients of different European origins: A single shared hap-lotype indicates ancestral founder effects
Bachinski LL, Udd B, Meola G, et al. Confirmation of DM2 (CCTG)n expansion mutation in PROMM/PDM patients of different European origins: a single shared hap-lotype indicates ancestral founder effects. Am J Hum Genet 2003;73:835-848.
(2003)
Am J Hum Genet , vol.73
, pp. 835-848
Bachinski, L.L.1
Udd, B.2
Meola, G.3
6
0142027589
Myotonic dystrophy type 2: Human founder haplotype and evolutionary conservation of the repeat tract
Liquori CL, Ikeda Y, Weatherspoon M, et al. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract Am J Hum Genet 2003;73:849-862.
(2003)
Am J Hum Genet , vol.73
, pp. 849-862
Liquori, C.L.1
Ikeda, Y.2
Weatherspoon, M.3
7
4043062265
Homozygosity for CCTG mutation in myotonic dystrophy type 2
Schoser BGH, Kress W, Walter MC, et al. Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain 2004;127:1868-1877.
(2004)
Brain , vol.127
, pp. 1868-1877
Schoser, B.G.H.1
Kress, W.2
Walter, M.C.3
8
62149097986
Premu-tation allele pool in myotonic dystrophy type 2
Bachinski LL, Czernuszewicz T, Ramagli LS, et al. Premu-tation allele pool in myotonic dystrophy type 2. Neurology 2009;72:490-497.
(2009)
Neurology , vol.72
, pp. 490-497
Bachinski, L.L.1
Czernuszewicz, T.2
Ramagli, L.S.3
9
33745286272
*CAG repeats in Escherichia coli
*CAG repeats in Escherichia coli. J Mol Biol 2006;360:21-36.
(2006)
J Mol Biol , vol.360
, pp. 21-36
Dere, R.1
Wells, R.D.2
10
25844487226
Diseases of unstable repeat expansion: Mechanisms and common principles
Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005;6:743-755.
(2005)
Nat Rev Genet , vol.6
, pp. 743-755
Gatchel, J.R.1
Zoghbi, H.Y.2
