Literature DB >> 24126630

Genetics: Utility of next-generation sequencing in ataxias.

Eng-King Tan1.   

Abstract

Entities:  

Mesh：

Year:  2013        PMID： 24126630     DOI： 10.1038/nrneurol.2013.212

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


× No keyword cloud information.
  10 in total

1.  Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.

Authors:  Brent L Fogel; Barbara G Vickrey; Jenny Walton-Wetzel; Eli Lieber; Carole H Browner
Journal:  Genet Test Mol Biomarkers       Date:  2013-06-01

Review 2.  Machado-Joseph Disease: from first descriptions to new perspectives.

Authors:  Conceição Bettencourt; Manuela Lima
Journal:  Orphanet J Rare Dis       Date:  2011-06-02       Impact factor: 4.123

Review 3.  Whole-genome and whole-exome sequencing in neurological diseases.

Authors:  Jia-Nee Foo; Jian-Jun Liu; Eng-King Tan
Journal:  Nat Rev Neurol       Date:  2012-07-31       Impact factor: 42.937

Review 4.  The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.

Authors:  Joshua Hersheson; Andrea Haworth; Henry Houlden
Journal:  Hum Mutat       Date:  2012-07-02       Impact factor: 4.878

Review 5.  Genetic testing in spinocerebellar ataxias: defining a clinical role.

Authors:  E K Tan; T Ashizawa
Journal:  Arch Neurol       Date:  2001-02

6.  Spinocerebellar ataxias: an example of the challenges associated with genetic databases for dynamic mutations.

Authors:  Joanne E Martindale; Sara Seneca; Stefan Wieczorek; Jorge Sequeiros
Journal:  Hum Mutat       Date:  2012-08-01       Impact factor: 4.878

Review 7.  Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective.

Authors:  Jia Nee Foo; Jianjun Liu; Eng-King Tan
Journal:  Hum Genet       Date:  2013-03-23       Impact factor: 4.132

8.  Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.

Authors:  Wendy K M Liew; Tawfeg Ben-Omran; Basil T Darras; Sanjay P Prabhu; Darryl C De Vivo; Matteo Vatta; Yaping Yang; Christine M Eng; Wendy K Chung
Journal:  JAMA Neurol       Date:  2013-06       Impact factor: 18.302

Review 9.  Hereditary ataxias: overview.

Authors:  Suman Jayadev; Thomas D Bird
Journal:  Genet Med       Date:  2013-03-28       Impact factor: 8.822

10.  Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Authors:  Andrea H Németh; Alexandra C Kwasniewska; Stefano Lise; Ricardo Parolin Schnekenberg; Esther B E Becker; Katarzyna D Bera; Morag E Shanks; Lorna Gregory; David Buck; M Zameel Cader; Kevin Talbot; Rajith de Silva; Nicholas Fletcher; Rob Hastings; Sandeep Jayawant; Patrick J Morrison; Paul Worth; Malcolm Taylor; John Tolmie; Mary O'Regan; Ruth Valentine; Emily Packham; Julie Evans; Anneke Seller; Jiannis Ragoussis
Journal:  Brain       Date:  2013-09-11       Impact factor: 13.501
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.