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Volumn 38, Issue 8, 1996, Pages 739-743

Co-dominant inheritance of hyperekplexia and spastic paraparesis

Author keywords

[No Author keywords available]

Indexed keywords

COLONY STIMULATING FACTOR RECEPTOR; GLYCINE RECEPTOR; PHENOBARBITAL; VALPROIC ACID;

EID: 0029898185     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1996.tb12144.x     Document Type: Article
Times cited : (11)

References (12)
  • 1
    • 0026035171 scopus 로고
    • 'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood
    • Appleton RE, Farrell K, Dunn HG. (1991) 'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. Developmental Medicine and Child Neurology 33: 304-12.
    • (1991) Developmental Medicine and Child Neurology , vol.33 , pp. 304-312
    • Appleton, R.E.1    Farrell, K.2    Dunn, H.G.3
  • 2
    • 3543019740 scopus 로고
    • Neuromuscular disorders: 1. Primary muscle disease and anterior horn cell disorders
    • Brett EM. editor. Edinburgh: Churchill Livingstone
    • Brett EM, Lake BD. (1991) Neuromuscular disorders: 1. Primary muscle disease and anterior horn cell disorders. In: Brett EM. editor. Paediatric Neurology. 2nd ed. Edinburgh: Churchill Livingstone. p 53-115.
    • (1991) Paediatric Neurology. 2nd Ed. , pp. 53-115
    • Brett, E.M.1    Lake, B.D.2
  • 3
    • 0026683048 scopus 로고
    • Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease
    • Dubowitz LM, Bouza H, Hird MF, Jaeken J. (1992) Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet 340: 80-1.
    • (1992) Lancet , vol.340 , pp. 80-81
    • Dubowitz, L.M.1    Bouza, H.2    Hird, M.F.3    Jaeken, J.4
  • 5
    • 0028175530 scopus 로고
    • Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion
    • Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF. (1994) Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nature Genetics 7: 136-42.
    • (1994) Nature Genetics , vol.7 , pp. 136-142
    • Kingsmore, S.F.1    Giros, B.2    Suh, D.3    Bieniarz, M.4    Caron, M.G.5    Seldin, M.F.6
  • 7
    • 0028580443 scopus 로고
    • Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor
    • Rees MI, Andrew M, Jawad S, Owen MJ. (1994) Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor. Human Molecular Genetics 3: 2175-9.
    • (1994) Human Molecular Genetics , vol.3 , pp. 2175-2179
    • Rees, M.I.1    Andrew, M.2    Jawad, S.3    Owen, M.J.4
  • 8
    • 0026651547 scopus 로고
    • Startle disease or hyperexplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
    • Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. (1992) Startle disease or hyperexplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Annals of Neurology 31: 663-8.
    • (1992) Annals of Neurology , vol.31 , pp. 663-668
    • Ryan, S.G.1    Sherman, S.L.2    Terry, J.C.3    Sparkes, R.S.4    Torres, M.C.5    Mackey, R.W.6
  • 10
    • 0026006850 scopus 로고
    • Nose tapping test inducing as generalised flexor spasm: A hallmark of hyperexplexia
    • Shahar E, Brand N, Uziel Y, Barak Y. (1991) Nose tapping test inducing as generalised flexor spasm: a hallmark of hyperexplexia. Acta Paediatrica Scandinavica 80: 1073-7.
    • (1991) Acta Paediatrica Scandinavica , vol.80 , pp. 1073-1077
    • Shahar, E.1    Brand, N.2    Uziel, Y.3    Barak, Y.4
  • 11
    • 0027330927 scopus 로고
    • Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • Shiang R, Ryan SG, Zhu Y-Z, Hahn AF, O'Connell P, Wasmuth JJ. (1993) Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genetics 5: 351-8.
    • (1993) Nature Genetics , vol.5 , pp. 351-358
    • Shiang, R.1    Ryan, S.G.2    Zhu, Y.-Z.3    Hahn, A.F.4    O'Connell, P.5    Wasmuth, J.J.6
  • 12
    • 0026638939 scopus 로고
    • Vigabatrin for startle disease with altered cerebrospinal fluid free gamma aminobutyric acid
    • Stephenson JBP. (1992) Vigabatrin for startle disease with altered cerebrospinal fluid free gamma aminobutyric acid. Lancet 340: 430-1.
    • (1992) Lancet , vol.340 , pp. 430-431
    • Stephenson, J.B.P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.