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Journal Abstract Search

190 related items for PubMed ID: 19122027

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  • 2. Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.
    Hadano S, Kunita R, Otomo A, Suzuki-Utsunomiya K, Ikeda JE.
    Neurochem Int; 2007; 51(2-4):74-84. PubMed ID: 17566607
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  • 3. Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
    Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M.
    Invest Ophthalmol Vis Sci; 2005 Aug; 46(8):2726-35. PubMed ID: 16043844
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  • 4. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
    Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T.
    Nat Genet; 2001 Oct; 29(2):160-5. PubMed ID: 11586297
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  • 5. Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.
    Kress JA, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, Sperfeld AD.
    Ann Neurol; 2005 Nov; 58(5):800-3. PubMed ID: 16240357
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  • 9. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
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  • 13. The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.
    Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, Bresolin N, Miller CC, Tudor EL, Clementi E, Bassi MT.
    Brain; 2006 Jul; 129(Pt 7):1710-9. PubMed ID: 16670179
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  • 14. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 15. Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe.
    Verschuuren-Bemelmans CC, Winter P, Sival DA, Elting JW, Brouwer OF, Müller U.
    Eur J Hum Genet; 2008 Nov; 16(11):1407-11. PubMed ID: 18523452
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  • 16. A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.
    Valdmanis PN, Dupré N, Rouleau GA.
    Arch Neurol; 2008 Mar; 65(3):383-6. PubMed ID: 18332252
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  • 17. A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
    de Haan GJ, Pinto D, Carton D, Bader A, Witte J, Peters E, van Erp G, Vandereyken W, Boezeman E, Wapenaar MC, Boon P, Halley D, Koeleman BP, Lindhout D.
    Epilepsia; 2006 May; 47(5):851-9. PubMed ID: 16686649
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  • 20. A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss.
    Hilgert N, Topsakal V, van Dinther J, Offeciers E, Van de Heyning P, Van Camp G.
    Eur J Hum Genet; 2008 May; 16(5):593-602. PubMed ID: 18212818
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