Literature DB >> 23670308

Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.

Lars Schlotawa, Alrun Hotz, Christine Zeschnigk, Britta Hartmann, Jutta Gärtner, Deborah Morris-Rosendahl.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 23670308     DOI： 10.1007/s00415-013-6941-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  11 in total

Review 1.  Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Authors:  Lihadh Al-Gazali; Bassam R Ali
Journal:  Hum Mutat       Date:  2010-05       Impact factor: 4.878

Review 2.  Role for Reelin in stabilizing cortical architecture.

Authors:  Michael Frotscher
Journal:  Trends Neurosci       Date:  2010-07-01       Impact factor: 13.837

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.  Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation.

Authors:  T Hiesberger; M Trommsdorff; B W Howell; A Goffinet; M C Mumby; J A Cooper; J Herz
Journal:  Neuron       Date:  1999-10       Impact factor: 17.173

5.  Autosomal recessive cerebellar hypoplasia in the Hutterite population.

Authors:  Hannah C Glass; Kym M Boycott; Coleen Adams; Karen Barlow; James N Scott; Albert E Chudley; T Mary Fujiwara; Kenneth Morgan; Elaine Wirrell; D Ross McLeod
Journal:  Dev Med Child Neurol       Date:  2005-10       Impact factor: 5.449

6.  Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.

Authors:  V Schurig; A V Orman; P Bowen
Journal:  Am J Med Genet       Date:  1981

7.  Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.

Authors:  S Türkmen; K Hoffmann; Osman Demirhan; Defne Aruoba; N Humphrey; S Mundlos
Journal:  Eur J Hum Genet       Date:  2008-03-26       Impact factor: 4.246

8.  Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Authors:  Lia Abbasi Moheb; Andreas Tzschach; Masoud Garshasbi; Kimia Kahrizi; Hossein Darvish; Yaser Heshmati; Alireza Kordi; Hossein Najmabadi; Hans Hilger Ropers; Andreas Walter Kuss
Journal:  Eur J Hum Genet       Date:  2007-11-28       Impact factor: 4.246

9.  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

10.  Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.

Authors:  Tayfun Ozcelik; Nurten Akarsu; Elif Uz; Safak Caglayan; Suleyman Gulsuner; Onur Emre Onat; Meliha Tan; Uner Tan
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-07       Impact factor: 11.205
View more
  5 in total

1.  ATP8A2-related disorders as recessive cerebellar ataxia.

Authors:  Claire Guissart; Alexander N Harrison; Mehdi Benkirane; Ibrahim Oncel; Elif Acar Arslan; Anna K Chassevent; Kristin Baraῆano; Lise Larrieu; Maria Iascone; Romano Tenconi; Mireille Claustres; Nesibe Eroglu-Ertugrul; Patrick Calvas; Haluk Topaloglu; Robert S Molday; Michel Koenig
Journal:  J Neurol       Date:  2019-10-14       Impact factor: 4.849

2.  Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Authors:  Alessia Micalizzi; Isabella Moroni; Monia Ginevrino; Tommaso Biagini; Tommaso Mazza; Marta Romani; Enza Maria Valente
Journal:  Neurogenetics       Date:  2016-06-02       Impact factor: 2.660

3.  A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM).

Authors:  Martina Gerber; Andrea Fischer; Vidhya Jagannathan; Michaela Drögemüller; Cord Drögemüller; Martin J Schmidt; Filipa Bernardino; Eberhard Manz; Kaspar Matiasek; Kai Rentmeister; Tosso Leeb
Journal:  PLoS One       Date:  2015-02-10       Impact factor: 3.240

4.  Caudal Fossa Ratio in Normal Dogs and Eurasier Dogs with VLDLR-Associated Genetic Cerebellar Hypoplasia.

Authors:  Alexander Lauda; Andreas Bruehschwein; Joanna Ficek; Martin J Schmidt; André Klima; Andrea Meyer-Lindenberg; Andrea Fischer
Journal:  Front Vet Sci       Date:  2018-01-22

5.  Antagonistic and cooperative AGO2-PUM interactions in regulating mRNAs.

Authors:  Erin L Sternburg; Jason A Estep; Daniel K Nguyen; Yahui Li; Fedor V Karginov
Journal:  Sci Rep       Date:  2018-10-17       Impact factor: 4.379
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.