Literature DB >> 25842391

Evaluation of exome sequencing variation in undiagnosed ataxias.

Erin Sandford1, Jun Z Li2, Margit Burmeister3.   

Abstract

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Year:  2015        PMID: 25842391      PMCID: PMC4671475          DOI: 10.1093/brain/awv087

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  11 in total

1.  Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

Authors:  Forbes D Porter; David E Scherrer; Michael H Lanier; S Joshua Langmade; Vasumathi Molugu; Sarah E Gale; Dana Olzeski; Rohini Sidhu; Dennis J Dietzen; Rao Fu; Christopher A Wassif; Nicole M Yanjanin; Steven P Marso; John House; Charles Vite; Jean E Schaffer; Daniel S Ory
Journal:  Sci Transl Med       Date:  2010-11-03       Impact factor: 17.956

2.  Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Authors:  Anna H Hakonen; Silja Heiskanen; Vesa Juvonen; Ilse Lappalainen; Petri T Luoma; Maria Rantamaki; Gert Van Goethem; Ann Lofgren; Peter Hackman; Anders Paetau; Seppo Kaakkola; Kari Majamaa; Teppo Varilo; Bjarne Udd; Helena Kaariainen; Laurence A Bindoff; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2005-07-27       Impact factor: 11.025

3.  Inverse correlation between plasma oxysterol and LDL-cholesterol levels in hepatitis C virus-infected patients.

Authors:  Mario Arciello; Salvatore Petta; Valerio Leoni; Gino Iannucci; Giancarlo Labbadia; Carlo Cammà; Antonio Craxì; Clara Balsano
Journal:  Dig Liver Dis       Date:  2011-12-11       Impact factor: 4.088

4.  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

5.  Increased plasma levels of oxysterols, in vivo markers of oxidative stress, in patients with familial combined hyperlipidemia: reduction during atorvastatin and fenofibrate therapy.

Authors:  Marcello Arca; Silvia Natoli; Fausta Micheletta; Sara Riggi; Emanuele Di Angelantonio; Anna Montali; Teresa Maria Antonini; Roberto Antonini; Ulf Diczfalusy; Luigi Iuliano
Journal:  Free Radic Biol Med       Date:  2006-12-16       Impact factor: 7.376

6.  POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Authors:  G Van Goethem; P Luoma; M Rantamäki; A Al Memar; S Kaakkola; P Hackman; R Krahe; A Löfgren; J J Martin; P De Jonghe; A Suomalainen; B Udd; C Van Broeckhoven
Journal:  Neurology       Date:  2004-10-12       Impact factor: 9.910

Review 7.  Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Authors:  Kim Cryns; Theru A Sivakumaran; Jody M W Van den Ouweland; Ronald J E Pennings; Cor W R J Cremers; Kris Flothmann; Terry-Lynn Young; Richard J H Smith; Marci M Lesperance; Guy Van Camp
Journal:  Hum Mutat       Date:  2003-10       Impact factor: 4.878

Review 8.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Shaw; Andrew Phillips; David N Cooper
Journal:  Hum Genet       Date:  2014-01       Impact factor: 4.132

9.  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.  Exome sequencing in undiagnosed inherited and sporadic ataxias.

Authors:  Angela Pyle; Tania Smertenko; David Bargiela; Helen Griffin; Jennifer Duff; Marie Appleton; Konstantinos Douroudis; Gerald Pfeffer; Mauro Santibanez-Koref; Gail Eglon; Patrick Yu-Wai-Man; Venkateswaran Ramesh; Rita Horvath; Patrick F Chinnery
Journal:  Brain       Date:  2014-12-12       Impact factor: 13.501

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  1 in total

1.  Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.

Authors:  Bart P van de Warrenburg; Meyke I Schouten; Susanne T de Bot; Sascha Vermeer; Rowdy Meijer; Maartje Pennings; Christian Gilissen; Michèl Aap Willemsen; Hans Scheffer; Erik-Jan Kamsteeg
Journal:  Eur J Hum Genet       Date:  2016-05-11       Impact factor: 4.246

  1 in total

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