Literature DB >> 27834362

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, James Gusella, Jonathan D Picker.   

Abstract

Entities:  

Year:  2016        PMID： 27834362      PMCID： PMC5117917          DOI： 10.1038/ejhg.2016.112

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  3 in total

1.  Haplotype-based stratification of Huntington's disease.

Authors:  Michael J Chao; Tammy Gillis; Ranjit S Atwal; Jayalakshmi Srinidhi Mysore; Jamshid Arjomand; Denise Harold; Peter Holmans; Lesley Jones; Michael Orth; Richard H Myers; Seung Kwak; Vanessa C Wheeler; Marcy E MacDonald; James F Gusella; Jong-Min Lee
Journal:  Eur J Hum Genet       Date:  2017-08-23       Impact factor: 4.246

2.  Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

Authors:  Roy Jung; Yejin Lee; Douglas Barker; Kevin Correia; Baehyun Shin; Jacob Loupe; Ryan L Collins; Diane Lucente; Jayla Ruliera; Tammy Gillis; Jayalakshmi S Mysore; Lance Rodan; Jonathan Picker; Jong-Min Lee; David Howland; Ramee Lee; Seung Kwak; Marcy E MacDonald; James F Gusella; Ihn Sik Seong
Journal:  Hum Mol Genet       Date:  2021-04-26       Impact factor: 6.150

3.  Antagonistic pleiotropy in mice carrying a CAG repeat expansion in the range causing Huntington's disease.

Authors:  A J Morton; E A Skillings; N I Wood; Z Zheng
Journal:  Sci Rep       Date:  2019-01-10       Impact factor: 4.379
  3 in total

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