Literature DB >> 18310270

"SCA16" is really SCA15.

R J M Gardner.   

Abstract

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Year:  2008        PMID： 18310270     DOI： 10.1136/jmg.2007.056341

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

Review 1.  Cardiac inositol 1,4,5-trisphosphate receptors.

Authors:  M Iveth Garcia; Darren Boehning
Journal:  Biochim Biophys Acta Mol Cell Res       Date:  2016-11-22       Impact factor: 4.739

Review 2.  Spinocerebellar ataxia 15: A phenotypic review and expansion.

Authors:  Philip W Tipton; Kimberly Guthrie; Audrey Strongosky; Ronald Reimer; Zbigniew K Wszolek
Journal:  Neurol Neurochir Pol       Date:  2016-11-10       Impact factor: 1.621

3.  Spinocerebellar ataxia type 11 in the Chinese Han population.

Authors:  Qian Xu; Xiaohui Li; Junling Wang; JiPing Yi; Lifang Lei; Lu Shen; Hong Jiang; Kun Xia; Qian Pan; Beisha Tang
Journal:  Neurol Sci       Date:  2009-09-19       Impact factor: 3.307

4.  Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.

Authors:  Joyce van de Leemput; Fabienne Wavrant-De Vrièze; Ian Rafferty; Jose M Bras; Paola Giunti; Elizabeth M C Fisher; John A Hardy; Andrew B Singleton; Henry Houlden
Journal:  Mov Disord       Date:  2010-04-30       Impact factor: 10.338

5.  Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia.

Authors:  Sherry-Ann Brown; Leslie M Loew
Journal:  BMC Syst Biol       Date:  2012-06-15

Review 6.  Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.

Authors:  Nathaniel Robb Whaley; Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Orphanet J Rare Dis       Date:  2011-05-28       Impact factor: 4.123

7.  SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Authors:  Cecilia Marelli; Joyce van de Leemput; Janel O Johnson; Francois Tison; Christel Thauvin-Robinet; Fabienne Picard; Christine Tranchant; Dena G Hernandez; Bernard Huttin; Jacques Boulliat; Iban Sangla; Christian Marescaux; Serge Brique; Hélène Dollfus; Sampath Arepalli; Isabelle Benatru; Elisabeth Ollagnon; Sylvie Forlani; John Hardy; Giovanni Stevanin; Alexandra Dürr; Andrew Singleton; Alexis Brice
Journal:  Arch Neurol       Date:  2011-05

Review 8.  Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).

Authors:  Francesca Prestori; Francesco Moccia; Egidio D'Angelo
Journal:  Int J Mol Sci       Date:  2019-12-27       Impact factor: 5.923
  8 in total

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