Literature DB >> 34232402

Roussy-Lévy syndrome: a case of genotype-phenotype correlation.

Ettore Cioffi1, Valeria Gioiosa2, Mariano Serrao2, Carlo Casali2.   

Abstract

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Year:  2021        PMID： 34232402     DOI： 10.1007/s10072-021-05451-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  4 in total

1.  Updating the classification of inherited neuropathies: Results of an international survey.

Authors:  Laurent Magy; Stéphane Mathis; Gwendal Le Masson; Cyril Goizet; Meriem Tazir; Jean-Michel Vallat
Journal:  Neurology       Date:  2018-02-02       Impact factor: 9.910

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.  Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

Authors:  L E Warner; M J Hilz; S H Appel; J M Killian; E H Kolodry; G Karpati; S Carpenter; G V Watters; C Wheeler; D Witt; A Bodell; E Nelis; C Van Broeckhoven; J R Lupski
Journal:  Neuron       Date:  1996-09       Impact factor: 17.173

4.  Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.

Authors:  A Kochański; H Drac; H Jedrzejowska; I Hausmanowa-Petrusewicz
Journal:  Eur J Neurol       Date:  2003-09       Impact factor: 6.089
  4 in total

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