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Journal Abstract Search

396 related items for PubMed ID: 16009769

  • 21. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
    Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.
    Arch Neurol; 2004 Dec; 61(12):1867-72. PubMed ID: 15596607
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
    Kadnikova VA, Rudenskaya GE, Stepanova AA, Sermyagina IG, Ryzhkova OP.
    Sci Rep; 2019 Oct 08; 9(1):14412. PubMed ID: 31594988
    [Abstract] [Full Text] [Related]

  • 24. Hereditary spastic paraplegias.
    Lau KK, Ching CK, Mak CM, Chan YW.
    Hong Kong Med J; 2009 Jun 08; 15(3):217-20. PubMed ID: 19494379
    [Abstract] [Full Text] [Related]

  • 25. 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 08; 59(2):281-6. PubMed ID: 11843700
    [Abstract] [Full Text] [Related]

  • 26. 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 08; 44(4):281-4. PubMed ID: 17098887
    [Abstract] [Full Text] [Related]

  • 27. 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 08; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

  • 28. 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 08; 61(1):49-55. PubMed ID: 14732620
    [Abstract] [Full Text] [Related]

  • 29. 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 08; 25(5):506. PubMed ID: 15841487
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. 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 Sep 15; 47(9):473-7. PubMed ID: 12202986
    [Abstract] [Full Text] [Related]

  • 32. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
    Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM.
    J Neurol Sci; 2016 May 15; 364():116-21. PubMed ID: 27084228
    [Abstract] [Full Text] [Related]

  • 33. A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia.
    Lim JS, Sung JJ, Hong YH, Park SS, Park KS, Cha JI, Lee JY, Lee KW.
    J Neurol Sci; 2010 Mar 15; 290(1-2):186-9. PubMed ID: 19939411
    [Abstract] [Full Text] [Related]

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  • 36. Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.
    Chan KY, Ching CK, Mak CM, Lam CW, Chan AY.
    Hong Kong Med J; 2009 Aug 15; 15(4):304-7. PubMed ID: 19652243
    [Abstract] [Full Text] [Related]

  • 37. 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
    [Abstract] [Full Text] [Related]

  • 38. Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.
    Sulek A, Elert E, Rajkiewicz M, Zdzienicka E, Stepniak I, Krysa W, Zaremba J.
    Neurol Sci; 2013 Feb 15; 34(2):239-42. PubMed ID: 22203332
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
    Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW.
    J Neurol Sci; 2015 Oct 15; 357(1-2):167-72. PubMed ID: 26208798
    [Abstract] [Full Text] [Related]

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