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Journal Abstract Search

207 related items for PubMed ID: 20108356

  • 21. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
    Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.
    PLoS Genet; 2011 Oct; 7(10):e1002325. PubMed ID: 22022284
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  • 23. Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.
    Fink JK, Hedera P.
    Semin Neurol; 1999 Oct; 19(3):301-9. PubMed ID: 12194386
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  • 24. Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.
    Gucuyener K, Hirfanoglu T, Ok I, Cansu A, Serdaroglu A.
    J Child Neurol; 2007 Feb; 22(2):214-7. PubMed ID: 17621486
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  • 27. 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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  • 30. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.
    Agosta F, Scarlato M, Spinelli EG, Canu E, Benedetti S, Bassi MT, Casali C, Sessa M, Copetti M, Pagani E, Comi G, Ferrari M, Falini A, Filippi M.
    Radiology; 2015 Jul; 276(1):207-18. PubMed ID: 25611737
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  • 33. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.
    Olmez A, Uyanik G, Ozgül RK, Gross C, Cirak S, Elibol B, Anlar B, Winner B, Hehr U, Topaloglu H, Winkler J.
    Neuropediatrics; 2006 Apr; 37(2):59-66. PubMed ID: 16773502
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  • 34. A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.
    Wakil SM, Bohlega S, Hagos S, Baz B, Al Dossari H, Ramzan K, Al-Hassnan ZN.
    Eur J Med Genet; 2013 Jan; 56(1):43-5. PubMed ID: 23085305
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  • 38. A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer's disease and spastic paraparesis.
    Raman A, Lin X, Suri M, Hewitt M, Constantinescu CS, Phillips MF.
    J Neurol Sci; 2007 Sep 15; 260(1-2):78-82. PubMed ID: 17507029
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  • 39. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
    Int J Mol Sci; 2015 Oct 21; 16(10):25050-66. PubMed ID: 26506339
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