Concepedia

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

S. Gerber, Kamil J. Alzayady, Lydie Bürglen, Dominique Brémond‐Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoît Funalot, Raphaël Calmon, Alexandra Dürr,

The American Journal of Human Genetics · 2016 · 147 citations · 40 references

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40

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor

Mineo Matsumoto, Toshiyuki Nakagawa, Takafumi Inoue et al. · Nature · 1996 · 485 citations

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The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

Harry C. Dietz, David Valle, Clair A. Francomano et al. · Science · 1993 · 432 citations

, , +16

Type I, II, and III Inositol 1,4,5-Trisphosphate Receptors Are Unequally Susceptible to Down-regulation and Are Expressed in Markedly Different Proportions in Different Cell Types

Richard J.H. Wojcikiewicz · Journal of Biological Chemistry · 1995 · 418 citations · Full text

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Genetic evidence for involvement of type 1, type 2 and type 3 inositol 1,4,5‐trisphosphate receptors in signal transduction through the B‐cell antigen receptor

Hitoshi Sugawara · The EMBO Journal · 1997 · 411 citations · Full text

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Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

Joyce van de Leemput, Jayanth Chandran, Melanie A. Knight et al. · PLoS Genetics · 2007 · 349 citations · Full text

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