Literature DB >> 22675078

Genomic medicine enters the neurology clinic.

Giovanni Coppola, Daniel H Geschwind.   

Abstract

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Year:  2012        PMID： 22675078     DOI： 10.1212/WNL.0b013e31825f06d9

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  8 in total

Review 1.  Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Authors:  Vikram G Shakkottai; Brent L Fogel
Journal:  Neurol Clin       Date:  2013-07-30       Impact factor: 3.806

2.  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 3.  The clinical maze of mitochondrial neurology.

Authors:  Salvatore DiMauro; Eric A Schon; Valerio Carelli; Michio Hirano
Journal:  Nat Rev Neurol       Date:  2013-07-09       Impact factor: 42.937

4.  Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Authors:  Brent L Fogel; Ellen Cho; Amanda Wahnich; Fuying Gao; Olivier J Becherel; Xizhe Wang; Francesca Fike; Leslie Chen; Chiara Criscuolo; Giuseppe De Michele; Alessandro Filla; Abigail Collins; Angelika F Hahn; Richard A Gatti; Genevieve Konopka; Susan Perlman; Martin F Lavin; Daniel H Geschwind; Giovanni Coppola
Journal:  Hum Mol Genet       Date:  2014-04-23       Impact factor: 6.150

Review 5.  Current analysis platforms and methods for detecting copy number variation.

Authors:  Wenli Li; Michael Olivier
Journal:  Physiol Genomics       Date:  2012-11-06       Impact factor: 3.107

6.  Molecular genetics of charcot-marie-tooth disease: from genes to genomes.

Authors:  H Azzedine; J Senderek; C Rivolta; R Chrast
Journal:  Mol Syndromol       Date:  2012-10-12

7.  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

Review 8.  The neurogenetics of atypical parkinsonian disorders.

Authors:  Brent L Fogel; Mary C Clark; Daniel H Geschwind
Journal:  Semin Neurol       Date:  2014-06-25       Impact factor: 3.420
  8 in total

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