Literature DB >> 23744890

Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.

Christopher J Klein, Yanhong Wu, Xiaohui Duan, Sumit Middha, Brian D Dawson, Jean-Pierre Kocher, Peter J Dyck.   

Abstract

Entities:  

Keywords:  MOTOR NEURON DISEASE; NEUROGENETICS

Mesh：

Substances：

Year:  2013        PMID： 23744890      PMCID： PMC3901796          DOI： 10.1136/jnnp-2013-305400

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

Review 1.  Inherited neuropathies: clinical overview and update.

Authors:  Christopher J Klein; Xiaohui Duan; Michael E Shy
Journal:  Muscle Nerve       Date:  2013-06-26       Impact factor: 3.217

2.  ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.

Authors:  M Weber; C Neuwirth; J Thierbach; K Schweikert; A Czaplinski; J Petersen; H H Jung; A Birve; S L Marklund; P M Andersen
Journal:  J Neurol Neurosurg Psychiatry       Date:  2011-06-23       Impact factor: 10.154

Review 3.  Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Authors:  Peter M Andersen; Ammar Al-Chalabi
Journal:  Nat Rev Neurol       Date:  2011-10-11       Impact factor: 42.937

4.  Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Authors:  Gladys Montenegro; Eric Powell; Jia Huang; Fiorella Speziani; Yvonne J K Edwards; Gary Beecham; William Hulme; Carly Siskind; Jeffery Vance; Michael Shy; Stephan Züchner
Journal:  Ann Neurol       Date:  2011-01-20       Impact factor: 10.422

5.  ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics.

Authors:  Olubunmi Abel; John F Powell; Peter M Andersen; Ammar Al-Chalabi
Journal:  Hum Mutat       Date:  2012-07-16       Impact factor: 4.878
  5 in total

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