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Journal Abstract Search

197 related items for PubMed ID: 22246010

  • 1. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.
    Wakil SM, Murad HN, Baz BM, Hagos ST, Al-Amr RA, Al-Yamani SA, Al-Wadaee SM, Meyer BF, Bohlega SA.
    Neurosciences (Riyadh); 2012 Jan; 17(1):48-52. PubMed ID: 22246010
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  • 2. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).
    Winner B, Uyanik G, Gross C, Lange M, Schulte-Mattler W, Schuierer G, Marienhagen J, Hehr U, Winkler J.
    Arch Neurol; 2004 Jan; 61(1):117-21. PubMed ID: 14732628
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  • 4. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
    Lossos A, Stevanin G, Meiner V, Argov Z, Bouslam N, Newman JP, Gomori JM, Klebe S, Lerer I, Elleuch N, Silverstein S, Durr A, Abramsky O, Ben-Nariah Z, Brice A.
    Arch Neurol; 2006 May; 63(5):756-60. PubMed ID: 16682547
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  • 6. A case report of SPG11 mutations in a Chinese ARHSP-TCC family.
    Zhang L, McFarland KN, Jiao J, Jiao Y.
    BMC Neurol; 2016 Jun 03; 16():87. PubMed ID: 27256065
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  • 7. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.
    Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K, Ueda M, Kamiya T, Katayama Y, Nakamura A, Takashima H, Nakagawa M, Masuda M, Utsumi H, Nakamuro T, Tada K, Kurohara K, Inoue K, Koike F, Sakai T, Tsuji S, Kobayashi H.
    Ann Neurol; 2000 Jul 03; 48(1):108-12. PubMed ID: 10894224
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  • 8. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
    Paisan-Ruiz C, Nath P, Wood NW, Singleton A, Houlden H.
    Eur J Neurol; 2008 Oct 03; 15(10):1065-70. PubMed ID: 18717728
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  • 9. Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
    Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A.
    Arch Neurol; 2008 Mar 03; 65(3):393-402. PubMed ID: 18332254
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  • 10. Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.
    Brockmann K, Simpson MA, Faber A, Bönnemann C, Crosby AH, Gärtner J.
    Neuropediatrics; 2005 Aug 03; 36(4):274-8. PubMed ID: 16138254
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  • 11. Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.
    França MC, D'Abreu A, Maurer-Morelli CV, Seccolin R, Appenzeller S, Alessio A, Damasceno BP, Nucci A, Cendes F, Lopes-Cendes I.
    Mov Disord; 2007 Aug 15; 22(11):1556-62. PubMed ID: 17516453
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  • 14. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
    Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A.
    Nat Genet; 2007 Mar 15; 39(3):366-72. PubMed ID: 17322883
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  • 15. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
    Paisan-Ruiz C, Dogu O, Yilmaz A, Houlden H, Singleton A.
    Neurology; 2008 Apr 15; 70(16 Pt 2):1384-9. PubMed ID: 18337587
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  • 17. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
    Orlén H, Melberg A, Raininko R, Kumlien E, Entesarian M, Söderberg P, Påhlman M, Darin N, Kyllerman M, Holmberg E, Engler H, Eriksson U, Dahl N.
    Am J Med Genet B Neuropsychiatr Genet; 2009 Oct 05; 150B(7):984-92. PubMed ID: 19194956
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  • 18. Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.
    Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor MA, de Castro P, Masdeu JC.
    J Neuroimaging; 2009 Jan 05; 19(1):52-60. PubMed ID: 19040626
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  • 19. Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study.
    Alfaidi N, Sobahy T, Ali Q, Al Said Y, Karim G, Khan H, Kurdi K, Cupler E.
    J Neurol Sci; 2022 Mar 15; 434():120144. PubMed ID: 35074613
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  • 20. Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.
    Ma J, Xiong L, Chang Y, Jing X, Huang W, Hu B, Shi X, Xu W, Wang Y, Li X.
    Parkinsonism Relat Disord; 2014 Feb 15; 20(2):256-9. PubMed ID: 24315199
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