Perryman MB - Search Results

1

Phenotypic expression of the myotonic dystrophy gene in monozygotic twins.

Dubel JR, Armstrong RM, Perryman MB, Epstein HF, Ashizawa T. Dubel JR, et al. Among authors: perryman mb. Neurology. 1992 Sep;42(9):1815-7. doi: 10.1212/wnl.42.9.1815. Neurology. 1992. PMID: 1513473

2

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick RG Jr, et al. Fu YH, et al. Among authors: perryman mb. Science. 1993 Apr 9;260(5105):235-8. doi: 10.1126/science.8469976. Science. 1993. PMID: 8469976

3

Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms.

Ashizawa T, Hejtmancik JF, Liu J, Perryman MB, Epstein HF, Koch DD. Ashizawa T, et al. Among authors: perryman mb. Am J Med Genet. 1992 Jan 1;42(1):55-60. doi: 10.1002/ajmg.1320420113. Am J Med Genet. 1992. PMID: 1364051

4

Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings.

Ashizawa T, Dunne CJ, Dubel JR, Perryman MB, Epstein HF, Boerwinkle E, Hejtmancik JF. Ashizawa T, et al. Among authors: perryman mb. Neurology. 1992 Oct;42(10):1871-7. doi: 10.1212/wnl.42.10.1871. Neurology. 1992. PMID: 1407565

5

Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the GCT repeat.

Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu YH, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF, et al. Ashizawa T, et al. Among authors: perryman mb. Neurology. 1992 Oct;42(10):1877-83. doi: 10.1212/wnl.42.10.1877. Neurology. 1992. PMID: 1407566

6

cDNA surveying of specific tissue expression of human chromosome 19 sequences.

Dunne PW, Wang SW, Ashizawa T, Perryman MB, Epstein HF. Dunne PW, et al. Among authors: perryman mb. Genomics. 1992 Oct;14(2):263-9. doi: 10.1016/s0888-7543(05)80215-0. Genomics. 1992. PMID: 1427842

7

NcoI and TaqI RFLPs for human M creatine kinase (CKM).

Perryman MB, Hejtmancik JF, Ashizawa T, Armstrong R, Lin SC, Roberts R, Epstein HF. Perryman MB, et al. Nucleic Acids Res. 1988 Sep 12;16(17):8744. doi: 10.1093/nar/16.17.8744. Nucleic Acids Res. 1988. PMID: 2901731 Free PMC article. No abstract available.

8

Myotonic dystrophy kinase is a component of neuromuscular junctions.

van der Ven PF, Jansen G, van Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PH, Veerkamp JH, Epstein HF, et al. van der Ven PF, et al. Among authors: perryman mb. Hum Mol Genet. 1993 Nov;2(11):1889-94. doi: 10.1093/hmg/2.11.1889. Hum Mol Genet. 1993. PMID: 8281152

9

Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19.

Buxton J, Shelbourne P, Davies J, Jones C, Perryman MB, Ashizawa T, Butler R, Brook D, Shaw D, de Jong P, et al. Buxton J, et al. Among authors: perryman mb. Genomics. 1992 Jul;13(3):526-31. doi: 10.1016/0888-7543(92)90120-h. Genomics. 1992. PMID: 1639381

10

Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy.

Marian AJ, Yu QT, Mares A Jr, Hill R, Roberts R, Perryman MB. Marian AJ, et al. Among authors: perryman mb. J Clin Invest. 1992 Dec;90(6):2156-65. doi: 10.1172/JCI116101. J Clin Invest. 1992. PMID: 1361491 Free PMC article.

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