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Journal Abstract Search

480 related items for PubMed ID: 7913294

  • 1. Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.
    Rosen DR, Sapp P, O'Regan J, McKenna-Yasek D, Schlumpf KS, Haines JL, Gusella JF, Horvitz HR, Brown RH.
    Am J Med Genet; 1994 May 15; 51(1):61-9. PubMed ID: 7913294
    [Abstract] [Full Text] [Related]

  • 2. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
    Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX.
    Nature; 1993 Mar 04; 362(6415):59-62. PubMed ID: 8446170
    [Abstract] [Full Text] [Related]

  • 3. Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.
    Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA.
    Arch Neurol; 2007 Feb 04; 64(2):240-5. PubMed ID: 17296840
    [Abstract] [Full Text] [Related]

  • 4. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.
    Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C.
    Nat Genet; 1994 Jul 04; 7(3):425-8. PubMed ID: 7920663
    [Abstract] [Full Text] [Related]

  • 5. Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
    Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, Kumar-Singh S, Van Broeckhoven C, Cruts M.
    Arch Neurol; 2010 May 04; 67(5):606-16. PubMed ID: 20457961
    [Abstract] [Full Text] [Related]

  • 6. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.
    Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S.
    J Clin Invest; 1993 Dec 04; 92(6):2807-13. PubMed ID: 8254035
    [Abstract] [Full Text] [Related]

  • 7. Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.
    Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF.
    Br J Dermatol; 2005 Jan 04; 152(1):29-36. PubMed ID: 15656797
    [Abstract] [Full Text] [Related]

  • 8. Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
    Edery P, Manach Y, Le Merrer M, Till M, Vignal A, Lyonnet S, Munnich A.
    Am J Med Genet; 1994 Aug 15; 52(2):174-7. PubMed ID: 7802004
    [Abstract] [Full Text] [Related]

  • 9. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.
    Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE.
    Ann Neurol; 1997 Nov 15; 42(5):803-7. PubMed ID: 9392581
    [Abstract] [Full Text] [Related]

  • 10. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
    Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF.
    Genomics; 1997 Apr 01; 41(1):93-9. PubMed ID: 9126487
    [Abstract] [Full Text] [Related]

  • 11. Genetic mapping of a mouse modifier gene that can prevent ALS onset.
    Kunst CB, Messer L, Gordon J, Haines J, Patterson D.
    Genomics; 2000 Dec 01; 70(2):181-9. PubMed ID: 11112346
    [Abstract] [Full Text] [Related]

  • 12. 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.
    N Engl J Med; 1991 May 16; 324(20):1381-4. PubMed ID: 2020294
    [Abstract] [Full Text] [Related]

  • 13. Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.
    Ruddy DM, Parton MJ, Al-Chalabi A, Lewis CM, Vance C, Smith BN, Leigh PN, Powell JF, Siddique T, Meyjes EP, Baas F, de Jong V, Shaw CE.
    Am J Hum Genet; 2003 Aug 16; 73(2):390-6. PubMed ID: 12840784
    [Abstract] [Full Text] [Related]

  • 14. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase.
    Andersen PM, Nilsson P, Ala-Hurula V, Keränen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL.
    Nat Genet; 1995 May 16; 10(1):61-6. PubMed ID: 7647793
    [Abstract] [Full Text] [Related]

  • 15. [Familial amyotrophic lateral sclerosis and mutations in the Cu/Zn superoxide dismutase gene].
    Nakano R.
    Rinsho Shinkeigaku; 1995 Dec 16; 35(12):1546-8. PubMed ID: 8752459
    [Abstract] [Full Text] [Related]

  • 16. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.
    Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, de Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH.
    Neurology; 2006 Mar 28; 66(6):839-44. PubMed ID: 16421333
    [Abstract] [Full Text] [Related]

  • 17. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China.
    Zhang H, Zhao H, Lu M, Zhang Y, Wang L, Zhang J, Ma D, Fan D.
    Amyotroph Lateral Scler Other Motor Neuron Disord; 2005 Dec 28; 6(4):234-8. PubMed ID: 16319027
    [Abstract] [Full Text] [Related]

  • 18. Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium.
    Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ.
    Eur J Hum Genet; 1999 Jul 28; 7(5):599-602. PubMed ID: 10439968
    [Abstract] [Full Text] [Related]

  • 19. Index, comprehensive microsatellite, and unified linkage maps of human chromosome 14 with cytogenetic tie points and a telomere microsatellite marker.
    Pandit SD, Wang JC, Veile RA, Mishra SK, Warlick CA, Donis-Keller H.
    Genomics; 1995 Oct 10; 29(3):653-64. PubMed ID: 8575758
    [Abstract] [Full Text] [Related]

  • 20. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Jul 10; 41(8):2080-6. PubMed ID: 10892847
    [Abstract] [Full Text] [Related]

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