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Journal Abstract Search

174 related items for PubMed ID: 3460961

  • 21. 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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  • 24. Hereditary spastic paraplegia: a clinical and genetic study of cases in the north-east of England.
    Livingstone IR, Roberts DF.
    J Genet Hum; 1983 Dec; 31(4):295-305. PubMed ID: 6582228
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  • 25. Troyer syndrome: a recessively inherited form of spastic paraplegia with distal muscle wasting.
    Cross HE.
    Birth Defects Orig Artic Ser; 1971 Feb; 7(1):211-3. PubMed ID: 5173362
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  • 27. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
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  • 29. Recessively inherited 'pure' spastic paraplegia: case study.
    de Coo IF, Gabreëls FJ, Renier WO, Colon EJ, ter Haar BG.
    Clin Neurol Neurosurg; 1982 Jan; 84(4):247-53. PubMed ID: 6301736
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  • 31. Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.
    Schwartz C, Fitch N, Phelan MC, Richer CL, Stevenson R.
    Hum Genet; 1987 May; 76(1):54-7. PubMed ID: 3471705
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  • 33. Familial spastic paraplegia.
    Rischbieth RH.
    Proc Aust Assoc Neurol; 1973 May; 10(0):31-3. PubMed ID: 4792159
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  • 34. Assignment of the gene for dyskeratosis congenita to Xq28.
    Connor JM, Gatherer D, Gray FC, Pirrit LA, Affara NA.
    Hum Genet; 1986 Apr; 72(4):348-51. PubMed ID: 3009302
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  • 37. 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; 3(8):1263-7. PubMed ID: 7987300
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  • 38. Localisation of the gene for Hunter syndrome on the long arm of X chromosome.
    Upadhyaya M, Sarfarazi M, Bamforth JS, Thomas NS, Oberle I, Young I, Harper PS.
    Hum Genet; 1986 Dec; 74(4):391-8. PubMed ID: 2878868
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  • 39. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.
    Harding AE.
    J Neurol Neurosurg Psychiatry; 1981 Oct; 44(10):871-83. PubMed ID: 7310405
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  • 40. Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.
    Lo Nigro C, Cusano R, Gigli GL, Forabosco P, Valente M, Ravazzolo R, Diomedi M, Seri M.
    Am J Med Genet A; 2003 Mar 01; 117A(2):116-21. PubMed ID: 12567407
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