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Journal Abstract Search

103 related items for PubMed ID: 7783167

  • 1. Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.
    Woods G, Black G, Norbury G.
    J Med Genet; 1995 Mar; 32(3):191-6. PubMed ID: 7783167
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  • 2. 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; 100(2):287-9. PubMed ID: 9254866
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  • 3. 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
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  • 4. X-linked spastic paraplegia.
    Ulkü A, Karasoy H, Karatepe A, Gökçay F.
    Acta Neurol Scand; 1991 Jun; 83(6):403-6. PubMed ID: 1887764
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  • 5. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
    Tsao CY, Mendell JR, Bartholomew D.
    J Child Neurol; 2001 Jul; 16(7):533-5. PubMed ID: 11453454
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  • 6. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.
    Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D.
    J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352
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  • 7. 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 Apr; 5(1):1-10. PubMed ID: 8031529
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  • 9. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
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  • 13. A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.
    Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL, Conforti FL, Mazzei R, Caracciolo M, Casari G, Ardito B, Lastilla M, Gambardella A, Quattrone A.
    J Neurol; 2002 Oct; 249(10):1413-6. PubMed ID: 12382159
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  • 14. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
    Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J.
    Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695538
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  • 15. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM.
    Eur J Neurol; 2016 Apr; 23(4):763-71. PubMed ID: 26756429
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  • 20. [Hereditary spastic paraplegia with coordination disorders and sensorineural deafness].
    Badalian LO, Iadgarov IS, Temin PA, Arkhipov BA, Bulaeva NV.
    Zh Nevropatol Psikhiatr Im S S Korsakova; 1990 Apr; 90(9):94-7. PubMed ID: 2176054
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