Literature DB >> 25664551

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply.

Michel Koenig1, Christine Tranchant2, Mathieu Anheim2.   

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Year:  2015        PMID： 25664551     DOI： 10.1001/jamaneurol.2014.3921

Source DB:  PubMed          Journal:  JAMA Neurol        ISSN： 2168-6149            Impact factor:   18.302


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  1 in total

1.  The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.

Authors:  Simon R Bushell; Ashley C W Pike; Maria E Falzone; Nils J G Rorsman; Chau M Ta; Robin A Corey; Thomas D Newport; John C Christianson; Lara F Scofano; Chitra A Shintre; Annamaria Tessitore; Amy Chu; Qinrui Wang; Leela Shrestha; Shubhashish M M Mukhopadhyay; James D Love; Nicola A Burgess-Brown; Rebecca Sitsapesan; Phillip J Stansfeld; Juha T Huiskonen; Paolo Tammaro; Alessio Accardi; Elisabeth P Carpenter
Journal:  Nat Commun       Date:  2019-09-02       Impact factor: 14.919
  1 in total

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