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Journal Abstract Search

209 related items for PubMed ID: 12634509

  • 1. Investigation of mitochondrial function in hereditary spastic paraparesis.
    McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KM, Turnbull DM, Shaw PJ.
    Neuroreport; 2003 Mar 03; 14(3):485-8. PubMed ID: 12634509
    [Abstract] [Full Text] [Related]

  • 2. 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 03; 18(1):150-7. PubMed ID: 20550563
    [Abstract] [Full Text] [Related]

  • 3. Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.
    Brugman F, Veldink JH, Franssen H, de Visser M, de Jong JM, Faber CG, Kremer BH, Schelhaas HJ, van Doorn PA, Verschuuren JJ, Bruyn RP, Kuks JB, Robberecht W, Wokke JH, van den Berg LH.
    Arch Neurol; 2009 Apr 03; 66(4):509-14. PubMed ID: 19364936
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 6. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia.
    Denton KR, Lei L, Grenier J, Rodionov V, Blackstone C, Li XJ.
    Stem Cells; 2014 Feb 11; 32(2):414-23. PubMed ID: 24123785
    [Abstract] [Full Text] [Related]

  • 7. 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 11; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

  • 8. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
    Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.
    Hum Mutat; 2002 Aug 11; 20(2):127-32. PubMed ID: 12124993
    [Abstract] [Full Text] [Related]

  • 9. [AAA ATPases and hereditary spastic paraplegia].
    Wang YG, Shen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 11; 26(3):298-301. PubMed ID: 19504443
    [Abstract] [Full Text] [Related]

  • 10. 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 11; 74(8):1109-12. PubMed ID: 12876245
    [Abstract] [Full Text] [Related]

  • 11. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.
    Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, Pozzoli U, D'Angelo MG, Meola G, Martinuzzi A, Crimella C, Redaelli F, Panzeri C, Renieri A, Comi GP, Turconi AC, Bresolin N, Bassi MT.
    Hum Mutat; 2008 Apr 11; 29(4):522-31. PubMed ID: 18200586
    [Abstract] [Full Text] [Related]

  • 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 11; 23(3):296-303. PubMed ID: 10610178
    [Abstract] [Full Text] [Related]

  • 13. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
    Sánchez-Ferrero E, Coto E, Corao AI, Díaz M, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López De Munaín A, Morís G, Infante J, Del Castillo E, Márquez C, Alvarez V.
    J Neurol; 2012 Feb 11; 259(2):246-50. PubMed ID: 21725714
    [Abstract] [Full Text] [Related]

  • 14. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
    Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.
    Neurology; 2007 Jul 24; 69(4):368-75. PubMed ID: 17646629
    [Abstract] [Full Text] [Related]

  • 15. 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 24; 62(7):1118-21. PubMed ID: 16009769
    [Abstract] [Full Text] [Related]

  • 16. 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 24; 21(2):170. PubMed ID: 12552568
    [Abstract] [Full Text] [Related]

  • 17. Peripheral neuropathy in hereditary spastic paraplegia due to spastin (SPG4) mutation--a neurophysiological study using excitability techniques.
    Kumar KR, Sue CM, Burke D, Ng K.
    Clin Neurophysiol; 2012 Jul 24; 123(7):1454-9. PubMed ID: 22192498
    [Abstract] [Full Text] [Related]

  • 18. Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.
    Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, Buda A, Pandolfo M.
    Panminerva Med; 2006 Sep 24; 48(3):193-7. PubMed ID: 17122756
    [Abstract] [Full Text] [Related]

  • 19. Autonomic dysfunction in hereditary spastic paraplegia type 4.
    González-Salazar C, Takazaki KAG, Martinez ARM, Pimentel-Silva LR, Jacinto-Scudeiro LA, Nakagawa ÉY, Fujiwara Murakami CE, Saute JAM, Pedroso JL, Barsottini OGP, Teive HAG, França MC.
    Eur J Neurol; 2019 Apr 24; 26(4):687-693. PubMed ID: 30489674
    [Abstract] [Full Text] [Related]

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