Literature DB >> 33981800

Broadening the Clinical Spectrum of Very Low Density Lipoprotein Receptor Associated Dysequilibrium Syndrome.

Gurusidheshwar M Wali1, Gautam Wali2,3.   

Abstract

Entities:  

Keywords:  VLDLR gene; dystonia; ocular telangiectasia; quadrupedal locomotion

Year:  2021        PMID： 33981800      PMCID： PMC8088106          DOI： 10.1002/mdc3.13184

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  6 in total

Review 1.  Reelin and brain development.

Authors:  Fadel Tissir; André M Goffinet
Journal:  Nat Rev Neurosci       Date:  2003-06       Impact factor: 34.870

2.  Resveratrol inhibits pathologic retinal neovascularization in Vldlr(-/-) mice.

Authors:  Jing Hua; Karen I Guerin; Jing Chen; Shaday Michán; Andreas Stahl; Nathan M Krah; Molly R Seaward; Roberta J Dennison; Aimee M Juan; Colman J Hatton; Przemyslaw Sapieha; David A Sinclair; Lois E H Smith
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-04-25       Impact factor: 4.799

3.  Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.

Authors:  Kym M Boycott; Shauna Flavelle; Alexandre Bureau; Hannah C Glass; T Mary Fujiwara; Elaine Wirrell; Krista Davey; Albert E Chudley; James N Scott; D Ross McLeod; Jillian S Parboosingh
Journal:  Am J Hum Genet       Date:  2005-07-22       Impact factor: 11.025

4.  Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).

Authors:  Kym M Boycott; Carsten Bonnemann; Joachim Herz; Stephanie Neuert; Chandree Beaulieu; James N Scott; Anuradha Venkatasubramanian; Jillian S Parboosingh
Journal:  J Child Neurol       Date:  2009-03-30       Impact factor: 1.987

Review 5.  Reelin and Neuropsychiatric Disorders.

Authors:  Kazuhiro Ishii; Ken-Ichiro Kubo; Kazunori Nakajima
Journal:  Front Cell Neurosci       Date:  2016-10-18       Impact factor: 5.505

Review 6.  Pathogenesis of dystonia: is it of cerebellar or basal ganglia origin?

Authors:  Ryuji Kaji; Kailash Bhatia; Ann M Graybiel
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-10-31       Impact factor: 10.154
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.