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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

346 related items for PubMed ID: 11586298

  • 1. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
    Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE.
    Nat Genet; 2001 Oct; 29(2):166-73. PubMed ID: 11586298
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  • 5. Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.
    Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA.
    Arch Neurol; 2003 Dec; 60(12):1768-71. PubMed ID: 14676054
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  • 10. 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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  • 11. ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.
    Hadano S, Otomo A, Suzuki-Utsunomiya K, Kunita R, Yanagisawa Y, Showguchi-Miyata J, Mizumura H, Ikeda JE.
    FEBS Lett; 2004 Sep 24; 575(1-3):64-70. PubMed ID: 15388334
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  • 12. [From gene to disease: amyotrophic lateral sclerosis].
    van Vught PW, Veldink JH, Baas F, van Muiswinkel FL, van den Berg LH.
    Ned Tijdschr Geneeskd; 2004 Oct 23; 148(43):2125-7. PubMed ID: 15553356
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  • 13. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
    Wakil SM, Ramzan K, Abuthuraya R, Hagos S, Al-Dossari H, Al-Omar R, Murad H, Chedrawi A, Al-Hassnan ZN, Finsterer J, Bohlega S.
    Gene; 2014 Feb 15; 536(1):217-20. PubMed ID: 24315819
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  • 14. 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 15; 16(11):1407-11. PubMed ID: 18523452
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  • 15. A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis.
    Al-Saif A, Al-Mohanna F, Bohlega S.
    Ann Neurol; 2011 Dec 15; 70(6):913-9. PubMed ID: 21842496
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  • 16. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.
    Sato K, Otomo A, Ueda MT, Hiratsuka Y, Suzuki-Utsunomiya K, Sugiyama J, Murakoshi S, Mitsui S, Ono S, Nakagawa S, Shang HF, Hadano S.
    J Biol Chem; 2018 Nov 02; 293(44):17135-17153. PubMed ID: 30224357
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  • 17. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
    Bedoyan JK, Friez MJ, DuPont B, Ahmad A.
    Eur J Med Genet; 2009 Nov 02; 52(4):262-4. PubMed ID: 19110080
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  • 19. Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease.
    Yamanaka K, Vande Velde C, Eymard-Pierre E, Bertini E, Boespflug-Tanguy O, Cleveland DW.
    Proc Natl Acad Sci U S A; 2003 Dec 23; 100(26):16041-6. PubMed ID: 14668431
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  • 20. Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein.
    Enunlu I, Ozansoy M, Basak AN.
    Biochem Biophys Res Commun; 2011 Sep 30; 413(3):471-5. PubMed ID: 21907703
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