Literature DB >> 17762032

Silver syndrome.

John Russell Silver1.   

Abstract

Entities:  

Mesh：

Year:  2007        PMID： 17762032      PMCID： PMC1962833          DOI： 10.1136/bmj.39210.408414.AD

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  5 in total

1.  Friedreich ataxia: from genes to therapies?

Authors:  Martin B Delatycki; Panos A Ioannou; Andrew J Churchyard
Journal:  Med J Aust       Date:  2005-05-02       Impact factor: 7.738

2.  Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.

Authors:  H Patel; P E Hart; T Warner; I Allen; H E Phillimore; J R Silver; N W Wood; S Jeffery; M A Patton; A H Crosby
Journal:  Am J Med Genet       Date:  2001-07-22

3.  Familial spastic paraplegia with amyotrophy of the hands.

Authors:  J R Silver
Journal:  Ann Hum Genet       Date:  1966-07       Impact factor: 1.670

4.  The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

Authors:  H Patel; P E Hart; T T Warner; R S Houlston; M A Patton; S Jeffery; A H Crosby
Journal:  Am J Hum Genet       Date:  2001-05-25       Impact factor: 11.025

5.  Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Authors:  Christian Windpassinger; Michaela Auer-Grumbach; Joy Irobi; Heema Patel; Erwin Petek; Gerd Hörl; Roland Malli; Johanna A Reed; Ines Dierick; Nathalie Verpoorten; Thomas T Warner; Christos Proukakis; Peter Van den Bergh; Christine Verellen; Lionel Van Maldergem; Luciano Merlini; Peter De Jonghe; Vincent Timmerman; Andrew H Crosby; Klaus Wagner
Journal:  Nat Genet       Date:  2004-02-22       Impact factor: 38.330
  5 in total

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