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Journal Abstract Search

319 related items for PubMed ID: 12552568

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  • 4. Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
    Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY.
    Arch Neurol; 2005 Jul; 62(7):1118-21. PubMed ID: 16009769
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  • 5. 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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  • 8. Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.
    Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH.
    J Neurol Sci; 2002 Sep 15; 201(1-2):65-9. PubMed ID: 12163196
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  • 9. Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.
    Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT.
    Arch Neurol; 2006 May 15; 63(5):750-5. PubMed ID: 16682546
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  • 10. Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
    Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V.
    Clin Genet; 2006 Dec 15; 70(6):490-5. PubMed ID: 17100993
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  • 11. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.
    Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA.
    Arch Neurol; 2002 Feb 15; 59(2):281-6. PubMed ID: 11843700
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  • 12. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
    Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J.
    Nat Genet; 1999 Nov 15; 23(3):296-303. PubMed ID: 10610178
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  • 13. Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
    Erichsen AK, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen CM.
    Eur J Neurol; 2007 Jul 15; 14(7):809-14. PubMed ID: 17594340
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  • 14. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.
    Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H.
    Arch Neurol; 2004 Jan 15; 61(1):49-55. PubMed ID: 14732620
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  • 15. 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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  • 16. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
    Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.
    Eur J Neurol; 2004 Dec 15; 11(12):817-24. PubMed ID: 15667412
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  • 17. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
    Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P.
    JAMA Neurol; 2013 Apr 15; 70(4):481-7. PubMed ID: 23400676
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  • 18. Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.
    Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, Siciliano G, Bertini E, Santorelli FM.
    J Neurol; 2002 Feb 15; 249(2):200-5. PubMed ID: 11985387
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  • 19. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
    Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.
    Eur J Neurol; 2011 Jan 15; 18(1):150-7. PubMed ID: 20550563
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  • 20. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
    Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A.
    J Med Genet; 2007 Apr 15; 44(4):281-4. PubMed ID: 17098887
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