Literature DB >> 22243284

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.

G Karadima, P Floroskufi, G Koutsis, D Vassilopoulos, M Panas.   

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Year:  2011        PMID： 22243284     DOI： 10.1111/j.1399-0004.2011.01657.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Authors:  V Fridman; B Bundy; M M Reilly; D Pareyson; C Bacon; J Burns; J Day; S Feely; R S Finkel; T Grider; C A Kirk; D N Herrmann; M Laurá; J Li; T Lloyd; C J Sumner; F Muntoni; G Piscosquito; S Ramchandren; R Shy; C E Siskind; S W Yum; I Moroni; E Pagliano; S Zuchner; S S Scherer; M E Shy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2014-11-27       Impact factor: 10.154

2.  Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.

Authors:  Kleita Michaelidou; Ioannis Tsiverdis; Sophia Erimaki; Dimitra Papadimitriou; Georgios Amoiridis; Alexandros Papadimitriou; Panayiotis Mitsias; Ioannis Zaganas
Journal:  Mol Genet Genomic Med       Date:  2020-02-05       Impact factor: 2.183

Review 3.  PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Authors:  Barbara W van Paassen; Anneke J van der Kooi; Karin Y van Spaendonck-Zwarts; Camiel Verhamme; Frank Baas; Marianne de Visser
Journal:  Orphanet J Rare Dis       Date:  2014-03-19       Impact factor: 4.123
  3 in total

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