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Journal Abstract Search

177 related items for PubMed ID: 22522442

  • 21. mnd2: a new mouse model of inherited motor neuron disease.
    Jones JM, Albin RL, Feldman EL, Simin K, Schuster TG, Dunnick WA, Collins JT, Chrisp CE, Taylor BA, Meisler MH.
    Genomics; 1993 Jun; 16(3):669-77. PubMed ID: 8325640
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  • 24. HSJ1 is a neuronal shuttling factor for the sorting of chaperone clients to the proteasome.
    Westhoff B, Chapple JP, van der Spuy J, Höhfeld J, Cheetham ME.
    Curr Biol; 2005 Jun 07; 15(11):1058-64. PubMed ID: 15936278
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  • 25. TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.
    Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T, Fujioka R, Harada M, Taniwaki T, Shibata H.
    Eur J Med Genet; 2019 Dec 07; 62(12):103594. PubMed ID: 30503856
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  • 27. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
    Brain; 2007 Apr 07; 130(Pt 4):1062-75. PubMed ID: 17347251
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  • 29. Hsp40 Molecules That Target to the Ubiquitin-proteasome System Decrease Inclusion Formation in Models of Polyglutamine Disease.
    Howarth JL, Kelly S, Keasey MP, Glover C, Lee YB, Mitrophanous K, Chapple JP, Gallo JM, Cheetham ME, Uney JB.
    Mol Ther; 2007 Jun 07; 15(6):1100-1105. PubMed ID: 28182921
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  • 33. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
    Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K.
    Nat Genet; 2004 Mar 07; 36(3):271-6. PubMed ID: 14981520
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  • 37. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B.
    Hum Mutat; 2000 Mar 07; 15(3):228-37. PubMed ID: 10679938
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  • 38. Genetic and physical delineation of the region overlapping the progressive motor neuropathy (pmn) locus on mouse chromosome 13.
    Martin N, Jaubert J, Glaser P, Szatanik M, Guénet JL.
    Genomics; 2001 Jul 07; 75(1-3):9-16. PubMed ID: 11472062
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  • 39. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.
    Arch Neurol; 2005 Aug 07; 62(8):1201-7. PubMed ID: 16087758
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  • 40. A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.
    Wang B, Li X, Huang S, Zhao H, Liu J, Hu Z, Lin Z, Liu L, Xie Y, Jin Q, Zhao H, Tang B, Niu Q, Zhang R.
    Clin Genet; 2019 Aug 07; 96(2):176-182. PubMed ID: 31069783
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