Literature DB >> 29100096

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B E Becker, Andrea H Németh.   

Abstract

Entities:  

Year:  2017        PMID： 29100096      PMCID： PMC5673670          DOI： 10.1016/j.ajhg.2017.10.008

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


× No keyword cloud information.
(The American Journal of Human Genetics 101, 451–458; September 7, 2017) In Figure 1C, the substitution “p.Tyr792Cys” incorrectly appeared as “p.Tyr292Cys.” This error has been corrected online. The authors regret this mistake.
  4 in total

Review 1.  Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias.

Authors:  Francesca Binda; Carla Pernaci; Smita Saxena
Journal:  Front Neurosci       Date:  2020-04-02       Impact factor: 4.677

2.  Global transcriptome profile of the developmental principles of in vitro iPSC-to-motor neuron differentiation.

Authors:  Emilia Solomon; Katie Davis-Anderson; Blake Hovde; Sofiya Micheva-Viteva; Jennifer Foster Harris; Scott Twary; Rashi Iyer
Journal:  BMC Mol Cell Biol       Date:  2021-02-18

Review 3.  Purkinje Cell Signaling Deficits in Animal Models of Ataxia.

Authors:  Eriola Hoxha; Ilaria Balbo; Maria Concetta Miniaci; Filippo Tempia
Journal:  Front Synaptic Neurosci       Date:  2018-04-26

4.  W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34.

Authors:  Raghavendra Y Nagaraja; David M Sherry; Jennifer L Fessler; Megan A Stiles; Feng Li; Karanpreet Multani; Albert Orock; Mohiuddin Ahmad; Richard S Brush; Robert E Anderson; Martin-Paul Agbaga; Ferenc Deák
Journal:  Mol Neurobiol       Date:  2021-07-05       Impact factor: 5.590
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.