McKenna-Yasek D - Search Results

1

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE. Wu CH, et al. Nature. 2012 Aug 23;488(7412):499-503. doi: 10.1038/nature11280. Nature. 2012. PMID: 22801503 Free PMC article.

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

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

4

Gene linkage in familial amyotrophic lateral sclerosis: a progress report.

Brown RH Jr, Horvitz HR, Rouleau GA, McKenna-Yasek D, Beard C, Sapp P, Haines JL, Gusella JF, Figlewicz DA. Brown RH Jr, et al. Adv Neurol. 1991;56:215-26. Adv Neurol. 1991. PMID: 1853758 No abstract available.

5

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity.

Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, Sapp P, Hung WY, Bebout J, McKenna-Yasek D, et al. Siddique T, et al. N Engl J Med. 1991 May 16;324(20):1381-4. doi: 10.1056/NEJM199105163242001. N Engl J Med. 1991. PMID: 2020294 Free article.

6

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

Sapp PC, Rosen DR, Hosler BA, Esteban J, McKenna-Yasek D, O'Regan JP, Horvitz HR, Brown RH Jr. Sapp PC, et al. Neuromuscul Disord. 1995 Sep;5(5):353-7. doi: 10.1016/0960-8966(95)00007-a. Neuromuscul Disord. 1995. PMID: 7496169

7

Apolipoprotein E epsilon 4 allele is not associated with earlier age at onset in amyotrophic lateral sclerosis.

Mui S, Rebeck GW, McKenna-Yasek D, Hyman BT, Brown RH Jr. Mui S, et al. Ann Neurol. 1995 Sep;38(3):460-3. doi: 10.1002/ana.410380318. Ann Neurol. 1995. PMID: 7668834

8

Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis.

Parboosingh JS, Rouleau GA, Meninger V, McKenna-Yasek D, Brown RH Jr, Figlewicz DA. Parboosingh JS, et al. Neuromuscul Disord. 1995 Jan;5(1):7-10. doi: 10.1016/0960-8966(94)e0022-z. Neuromuscul Disord. 1995. PMID: 7719145 Free article.

9

Superoxide dismutase concentration and activity in familial amyotrophic lateral sclerosis.

Bowling AC, Barkowski EE, McKenna-Yasek D, Sapp P, Horvitz HR, Beal MF, Brown RH Jr. Bowling AC, et al. J Neurochem. 1995 May;64(5):2366-9. doi: 10.1046/j.1471-4159.1995.64052366.x. J Neurochem. 1995. PMID: 7722523

10

Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21.

Figlewicz DA, McInnis MG, Goto J, Haines JL, Warren AC, Krizus A, Khodr N, Brown RH Jr, McKenna-Yasek D, Antonarakis SE, et al. Figlewicz DA, et al. J Neurol Sci. 1994 Jul;124 Suppl:90-5. doi: 10.1016/0022-510x(94)90190-2. J Neurol Sci. 1994. PMID: 7807155

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