McClatchey AI - Search Results

1

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH Jr. McClatchey AI, et al. Nat Genet. 1992 Oct;2(2):148-52. doi: 10.1038/ng1092-148. Nat Genet. 1992. PMID: 1338909

2

Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al. McClatchey AI, et al. Cell. 1992 Feb 21;68(4):769-74. doi: 10.1016/0092-8674(92)90151-2. Cell. 1992. PMID: 1310898

3

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.

McClatchey AI, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, Gilchrist J, Arahata K, Radosavljevic D, Worthen HG, et al. McClatchey AI, et al. Am J Hum Genet. 1992 May;50(5):896-901. Am J Hum Genet. 1992. PMID: 1315122 Free PMC article.

4

The genomic structure of the human skeletal muscle sodium channel gene.

McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF. McClatchey AI, et al. Hum Mol Genet. 1992 Oct;1(7):521-7. doi: 10.1093/hmg/1.7.521. Hum Mol Genet. 1992. PMID: 1339144

5

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.

Allitto BA, McClatchey AI, Barnes G, Altherr M, Wasmuth J, Frischauf AM, MacDonald ME, Gusella J. Allitto BA, et al. Among authors: mcclatchey ai. Mol Cell Probes. 1992 Dec;6(6):513-20. doi: 10.1016/0890-8508(92)90048-3. Mol Cell Probes. 1992. PMID: 1480191

6

Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.

Gusella JF, Altherr MR, McClatchey AI, Doucette-Stamm LA, Tagle D, Plummer S, Groot N, Barnes G, Hummerich H, Collins FS, et al. Gusella JF, et al. Among authors: mcclatchey ai. Genomics. 1992 May;13(1):75-80. doi: 10.1016/0888-7543(92)90204-6. Genomics. 1992. PMID: 1533609 Free article.

7

Detection by PCR of the VNTR polymorphism at D4S95.

Allitto BA, Horn GT, Altherr MR, Richards B, McClatchey AI, Wasmuth JJ, Gusella JF. Allitto BA, et al. Among authors: mcclatchey ai. Nucleic Acids Res. 1991 Jul 25;19(14):4015. doi: 10.1093/nar/19.14.4015-a. Nucleic Acids Res. 1991. PMID: 1677758 Free PMC article.

8

Detection by PCR of a VNTR polymorphism at D4S43.

Horn GT, McClatchey AI, Richards B, MacDonald ME, Gusella JF. Horn GT, et al. Among authors: mcclatchey ai. Nucleic Acids Res. 1991 Sep 11;19(17):4772. doi: 10.1093/nar/19.17.4772. Nucleic Acids Res. 1991. PMID: 1679922 Free PMC article.

9

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

McClatchey AI, Kaufman DL, Berson EL, Tobin AJ, Shih VE, Gusella JF, Ramesh V. McClatchey AI, et al. Am J Hum Genet. 1990 Nov;47(5):790-4. Am J Hum Genet. 1990. PMID: 2220818 Free PMC article.

10

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.

Tanzi RE, St George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin JF, Neve RL, McClatchey AI, Conneally PM, Gusella JF. Tanzi RE, et al. Among authors: mcclatchey ai. Nature. 1987 Sep 10-16;329(6135):156-7. doi: 10.1038/329156a0. Nature. 1987. PMID: 2888020

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