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Journal Abstract Search

307 related items for PubMed ID: 8320699

  • 1. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
    Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M.
    J Med Genet; 1993 May; 30(5):381-4. PubMed ID: 8320699
    [Abstract] [Full Text] [Related]

  • 2. Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.
    Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP.
    J Neurol Sci; 1996 May; 137(2):131-8. PubMed ID: 8782167
    [Abstract] [Full Text] [Related]

  • 3. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
    Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF.
    Neurology; 1996 Apr; 46(4):1112-7. PubMed ID: 8780101
    [Abstract] [Full Text] [Related]

  • 4. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype.
    Goldblatt J, Ballo R, Sachs B, Moosa A.
    Clin Genet; 1989 Feb; 35(2):116-20. PubMed ID: 2470540
    [Abstract] [Full Text] [Related]

  • 5. Further evidence for a fourth gene causing X-linked pure spastic paraplegia.
    Starling A, Rocco P, Cambi F, Hobson GM, Passos Bueno MR, Zatz M.
    Am J Med Genet; 2002 Aug 01; 111(2):152-6. PubMed ID: 12210342
    [Abstract] [Full Text] [Related]

  • 6. Novel syndromic form of X-linked complicated spastic paraplegia.
    Claes S, Devriendt K, Van Goethem G, Roelen L, Meireleire J, Raeymaekers P, Cassiman JJ, Fryns JP.
    Am J Med Genet; 2000 Sep 04; 94(1):1-4. PubMed ID: 10982473
    [Abstract] [Full Text] [Related]

  • 7. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
    De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S.
    Am J Hum Genet; 1998 Jul 04; 63(1):135-9. PubMed ID: 9634528
    [Abstract] [Full Text] [Related]

  • 8. Evidence of a third locus in X-linked recessive spastic paraplegia.
    Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Müller U.
    Hum Genet; 1997 Aug 04; 100(2):287-9. PubMed ID: 9254866
    [Abstract] [Full Text] [Related]

  • 9. Etiological heterogeneity in X-linked spastic paraplegia.
    Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R.
    Am J Hum Genet; 1987 Nov 04; 41(5):933-43. PubMed ID: 3479019
    [Abstract] [Full Text] [Related]

  • 10. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.
    Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y.
    Hum Mol Genet; 1994 Sep 04; 3(9):1569-73. PubMed ID: 7833913
    [Abstract] [Full Text] [Related]

  • 11. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).
    Bouslam N, Benomar A, Azzedine H, Bouhouche A, Namekawa M, Klebe S, Charon C, Durr A, Ruberg M, Brice A, Yahyaoui M, Stevanin G.
    Ann Neurol; 2005 Apr 04; 57(4):567-71. PubMed ID: 15786464
    [Abstract] [Full Text] [Related]

  • 12. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.
    Nat Genet; 1994 Mar 04; 6(3):257-62. PubMed ID: 8012387
    [Abstract] [Full Text] [Related]

  • 13. X-linked spastic paraplegia.
    Ulkü A, Karasoy H, Karatepe A, Gökçay F.
    Acta Neurol Scand; 1991 Jun 04; 83(6):403-6. PubMed ID: 1887764
    [Abstract] [Full Text] [Related]

  • 14. A new phenotype linked to SPG27 and refinement of the critical region on chromosome.
    Ribai P, Stevanin G, Bouslam N, Pontier B, Nelson I, Fontaine B, Dussert C, Charon C, Durr A, Brice A.
    J Neurol; 2006 Jun 04; 253(6):714-9. PubMed ID: 16511635
    [Abstract] [Full Text] [Related]

  • 15. Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.
    Topaloğlu H, Pinarli G, Erdem H, Gücüyener K, Karaduman A, Topçu M, Akarsu AN, Ozgüç M.
    Neuropediatrics; 1998 Aug 04; 29(4):189-94. PubMed ID: 9762694
    [Abstract] [Full Text] [Related]

  • 16. The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
    Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P.
    Genet Couns; 1994 Aug 04; 5(1):1-10. PubMed ID: 8031529
    [Abstract] [Full Text] [Related]

  • 17. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.
    Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH.
    J Neurol; 2004 Sep 04; 251(9):1068-74. PubMed ID: 15372247
    [Abstract] [Full Text] [Related]

  • 18. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.
    Orlacchio A, Kawarai T, Gaudiello F, St George-Hyslop PH, Floris R, Bernardi G.
    Ann Neurol; 2005 Sep 04; 58(3):423-9. PubMed ID: 16130112
    [Abstract] [Full Text] [Related]

  • 19. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
    Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T.
    Hum Mol Genet; 1994 Aug 04; 3(8):1263-7. PubMed ID: 7987300
    [Abstract] [Full Text] [Related]

  • 20. Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.
    De Jonghe P, Krols L, Michalik A, Hazan J, Smeyers G, Löfgren A, Weissenbach J, Martin JJ, Van Broeckhoven C.
    Eur J Hum Genet; 1996 Aug 04; 4(5):260-6. PubMed ID: 8946171
    [Abstract] [Full Text] [Related]

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