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Journal Abstract Search

251 related items for PubMed ID: 28572275

  • 21. Four mutations of the spastin gene in Japanese families with spastic paraplegia.
    Basri R, Yabe I, Soma H, Takei A, Nishimura H, Machino Y, Kokubo Y, Kosugi M, Okada R, Yukitake M, Tachibana H, Kuroda Y, Kuzuhara S, Sasaki H.
    J Hum Genet; 2006; 51(8):711-715. PubMed ID: 16788734
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  • 23. Infantile onset of hereditary spastic paraplegia poorly predicts the genotype.
    Blair MA, Riddle ME, Wells JF, Breviu BA, Hedera P.
    Pediatr Neurol; 2007 Jun; 36(6):382-6. PubMed ID: 17560499
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  • 24. SPAST mutations in Australian patients with hereditary spastic paraplegia.
    Vandebona H, Kerr NP, Liang C, Sue CM.
    Intern Med J; 2012 Dec; 42(12):1342-7. PubMed ID: 23252998
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  • 25. Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.
    Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C.
    Eur J Neurol; 2007 Dec; 14(12):1322-8. PubMed ID: 17916079
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  • 27. Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
    Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A.
    Eur J Hum Genet; 2000 Oct; 8(10):771-6. PubMed ID: 11039577
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  • 29. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
    Lu X, Cen Z, Xie F, Ouyang Z, Zhang B, Zhao G, Luo W.
    J Neurol Sci; 2014 Dec 15; 347(1-2):368-71. PubMed ID: 25454648
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  • 33. Large deletion mutation of SPAST in a multi-generation family from Sardinia.
    Racis L, Di Fabio R, Tessa A, Guillot F, Storti E, Piccolo F, Nesti C, Tedde A, Pierelli F, Agnetti V, Santorelli FM, Casali C.
    Eur J Neurol; 2014 Jun 15; 21(6):935-8. PubMed ID: 24824741
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  • 34. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
    Aulitzky A, Friedrich K, Gläser D, Gastl R, Kubisch C, Ludolph AC, Volk AE.
    J Neurol Sci; 2014 Dec 15; 347(1-2):352-5. PubMed ID: 25315759
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  • 36. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
    Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA.
    Am J Hum Genet; 2001 May 15; 68(5):1077-85. PubMed ID: 11309678
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  • 37. Clinical features of hereditary spastic paraplegia due to spastin mutation.
    McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ, UK and Irish HSP Consortium.
    Neurology; 2006 Jul 11; 67(1):45-51. PubMed ID: 16832076
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  • 39. Spastic paraplegia in Romania: high prevalence of SPG4 mutations.
    Orlacchio A, Patrono C, Borreca A, Babalini C, Bernardi G, Kawarai T.
    J Neurol Neurosurg Psychiatry; 2008 May 11; 79(5):606-7. PubMed ID: 17971434
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