Literature DB >> 7981700

An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.

D F Schorderet1, G Pescia, A Bernasconi, F Regli.   

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Year:  1994        PMID： 7981700     DOI： 10.1093/hmg/3.7.1201

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 in total

1.  A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

Authors:  N Milani; L Dalprá; A del Prete; R Zanini; L Larizza
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

2.  Properties of human glycine receptors containing the hyperekplexia mutation alpha1(K276E), expressed in Xenopus oocytes.

Authors:  T M Lewis; L G Sivilotti; D Colquhoun; R M Gardiner; R Schoepfer; M Rees
Journal:  J Physiol       Date:  1998-02-15       Impact factor: 5.182

3.  Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia.

Authors:  L J Schlapbach; A Sozzo; G Ramelli; M G Bianchetti
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

4.  Low level expression of glycine receptor beta subunit transgene is sufficient for phenotype correction in spastic mice.

Authors:  B Hartenstein; J Schenkel; J Kuhse; B Besenbeck; C Kling; C M Becker; H Betz; H Weiher
Journal:  EMBO J       Date:  1996-03-15       Impact factor: 11.598

5.  Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Authors:  F V Elmslie; S M Hutchings; V Spencer; A Curtis; T Covanis; R M Gardiner; M Rees
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318
  5 in total

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