Literature DB >> 19918771

A patient with neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B.

Eric Lancaster1, Lauren B Elman, Steven S Scherer.   

Abstract

We describe a patient with both neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. Although one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to interact.

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Mesh：

Year:  2010        PMID： 19918771      PMCID： PMC2847649          DOI： 10.1002/mus.21546

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


  33 in total

1.  Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma.

Authors:  L Kluwe; R Friedrich; V F Mautner
Journal:  Genes Chromosomes Cancer       Date:  1999-03       Impact factor: 5.006

2.  Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Authors:  S Bort; E Nelis; V Timmerman; T Sevilla; A Cruz-Martínez; F Martínez; J M Millán; J Arpa; J J Vílchez; F Prieto; C Van Broeckhoven; F Palau
Journal:  Hum Genet       Date:  1997-06       Impact factor: 4.132

3.  Neurological complications of neurofibromatosis type 1 in adulthood.

Authors:  A Créange; J Zeller; S Rostaing-Rigattieri; P Brugières; J D Degos; J Revuz; P Wolkenstein
Journal:  Brain       Date:  1999-03       Impact factor: 13.501

4.  Reliability and validity of the CMT neuropathy score as a measure of disability.

Authors:  M E Shy; J Blake; K Krajewski; D R Fuerst; M Laura; A F Hahn; J Li; R A Lewis; M Reilly
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910

5.  Regulation of Schwann cell numbers in tellurium-induced neuropathy: apoptosis, supernumerary cells and internodal shortening.

Authors:  M T Berciano; E Calle; R Fernández; M Lafarga
Journal:  Acta Neuropathol       Date:  1998-03       Impact factor: 17.088

6.  Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations.

Authors:  J Zielasek; R Martini; K V Toyka
Journal:  Muscle Nerve       Date:  1996-08       Impact factor: 3.217

7.  Neurofibromatous neuropathy in neurofibromatosis 1 (NF1).

Authors:  R E Ferner; R A C Hughes; S M Hall; M Upadhyaya; M R Johnson
Journal:  J Med Genet       Date:  2004-11       Impact factor: 6.318

8.  Plexiform and dermal neurofibromas and pigmentation are caused by Nf1 loss in desert hedgehog-expressing cells.

Authors:  Jianqiang Wu; Jon P Williams; Tilat A Rizvi; Jennifer J Kordich; David Witte; Dies Meijer; Anat O Stemmer-Rachamimov; Jose A Cancelas; Nancy Ratner
Journal:  Cancer Cell       Date:  2008-02       Impact factor: 31.743

9.  Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

Authors:  Shujuan Song; Yuanzhi Zhang; Biao Chen; Yuanjin Zhang; Manjie Wang; Yueying Wang; Ming Yan; Junhua Zou; Yu Huang; Nanbert Zhong
Journal:  Genet Med       Date:  2006-08       Impact factor: 8.822

Review 10.  How does the Schwann cell lineage form tumors in NF1?

Authors:  Steven L Carroll; Nancy Ratner
Journal:  Glia       Date:  2008-11-01       Impact factor: 8.073
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  2 in total

Review 1.  Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots.

Authors:  David O Onu; Andrew W Hunn; Jens Peters-Willke
Journal:  BMJ Case Rep       Date:  2013-07-13

2.  Integrative Analysis Identifies Candidate Tumor Microenvironment and Intracellular Signaling Pathways that Define Tumor Heterogeneity in NF1.

Authors:  Jineta Banerjee; Robert J Allaway; Jaclyn N Taroni; Aaron Baker; Xiaochun Zhang; Chang In Moon; Christine A Pratilas; Jaishri O Blakeley; Justin Guinney; Angela Hirbe; Casey S Greene; Sara Jc Gosline
Journal:  Genes (Basel)       Date:  2020-02-21       Impact factor: 4.096
  2 in total

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