Literature DB >> 18592125

A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.

S Zubair, N R Holland, B Beson, J T Parke, C I Prodan.   

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Year:  2008        PMID： 18592125     DOI： 10.1007/s00415-008-0896-5

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  4 in total

1.  Diagnosing Friedreich's ataxia.

Authors:  N W Wood
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

2.  The Roussy-Lévy family: from the original description to the gene.

Authors:  V Planté-Bordeneuve; A Guiochon-Mantel; C Lacroix; J Lapresle; G Said
Journal:  Ann Neurol       Date:  1999-11       Impact factor: 10.422

3.  Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.

Authors:  M Auer-Grumbach; S Strasser-Fuchs; K Wagner; E Körner; F Fazekas
Journal:  J Neurol Sci       Date:  1998-01-21       Impact factor: 3.181

4.  The phenotypic manifestations of chromosome 17p11.2 duplication.

Authors:  P K Thomas; W Marques; M B Davis; M G Sweeney; R H King; J L Bradley; J R Muddle; J Tyson; S Malcolm; A E Harding
Journal:  Brain       Date:  1997-03       Impact factor: 13.501
  4 in total
  1 in total

1.  Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.

Authors:  Na Young Jung; Hye Mi Kwon; Da Eun Nam; Nasrin Tamanna; Ah Jin Lee; Sang Beom Kim; Byung-Ok Choi; Ki Wha Chung
Journal:  Genes (Basel)       Date:  2022-07-08       Impact factor: 4.141
  1 in total

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