Literature DB >> 27261485

NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family.

C Stubbe1, P Bogdanova-Mihaylova2, N Austin3, S Murphy4, R Walsh5.   

Abstract

Entities:  

Year:  2016        PMID： 27261485      PMCID： PMC4986431          DOI： 10.1093/qjmed/hcw066

Source DB:  PubMed          Journal:  QJM        ISSN： 1460-2393


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  5 in total

1.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

2.  Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Authors:  M Anheim; M Fleury; B Monga; V Laugel; D Chaigne; G Rodier; E Ginglinger; C Boulay; S Courtois; N Drouot; M Fritsch; J P Delaunoy; D Stoppa-Lyonnet; C Tranchant; M Koenig
Journal:  Neurogenetics       Date:  2009-05-14       Impact factor: 2.660

3.  ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Authors:  Andrea Balreira; Veronika Boczonadi; Emanuele Barca; Angela Pyle; Boglarka Bansagi; Marie Appleton; Claire Graham; Iain P Hargreaves; Vedrana Milic Rasic; Hanns Lochmüller; Helen Griffin; Robert W Taylor; Ali Naini; Patrick F Chinnery; Michio Hirano; Catarina M Quinzii; Rita Horvath
Journal:  J Neurol       Date:  2014-09-03       Impact factor: 4.849

4.  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

Review 5.  Making the Leap from Research Laboratory to Clinic: Challenges and Opportunities for Next-Generation Sequencing in Infectious Disease Diagnostics.

Authors:  Brittany Goldberg; Heike Sichtig; Chelsie Geyer; Nathan Ledeboer; George M Weinstock
Journal:  mBio       Date:  2015-12-08       Impact factor: 7.867
  5 in total
  1 in total

1.  The Cost of Living with Inherited Ataxia in Ireland.

Authors:  Mark J Kelly; Petya Bogdanova-Mihaylova; Joshua Skeens; Sharon Moran; Sorcha Farrelly; Richard A Walsh; Sinéad M Murphy
Journal:  Cerebellum       Date:  2021-07-06       Impact factor: 3.648
  1 in total

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