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Journal Abstract Search

249 related items for PubMed ID: 17122756

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  • 3. 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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  • 4. 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 11; 8(10):771-6. PubMed ID: 11039577
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  • 5. 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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  • 6. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
    Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH.
    Hum Mutat; 2003 Feb 15; 21(2):170. PubMed ID: 12552568
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  • 7. 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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  • 8. 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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  • 9. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.
    Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J.
    J Neurol Neurosurg Psychiatry; 2003 Aug 15; 74(8):1109-12. PubMed ID: 12876245
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  • 10. A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.
    Ki CS, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW.
    J Hum Genet; 2002 Aug 15; 47(9):473-7. PubMed ID: 12202986
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  • 11. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
    Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A.
    Neuromuscul Disord; 2006 Jun 15; 16(6):387-90. PubMed ID: 16684598
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  • 12. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
    Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Ashley-Koch AE, Marchuk DA.
    Neurogenetics; 2004 Sep 15; 5(3):157-64. PubMed ID: 15248095
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  • 13. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
    Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM.
    Hum Mutat; 2005 May 15; 25(5):506. PubMed ID: 15841487
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  • 14. 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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  • 15. 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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  • 16. [From gene to disease; spastin and hereditary spastic paraparesis].
    Bruyn RP, Frants RR.
    Ned Tijdschr Geneeskd; 2004 Jan 24; 148(4):179-81. PubMed ID: 14974310
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  • 17. 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 24; 70(6):490-5. PubMed ID: 17100993
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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 24; 249(2):200-5. PubMed ID: 11985387
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  • 19. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
    Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J.
    Hum Mol Genet; 2000 Mar 01; 9(4):637-44. PubMed ID: 10699187
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  • 20. High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY, Chang YY, Yeh TH, Lai SC, Liou CW, Kuo HC, Wu YR, Lyu RK, Hung JW, Chang YC, Lu CS.
    BMC Neurol; 2014 Nov 25; 14():216. PubMed ID: 25421405
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