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Results: 6

1.

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA.

N Engl J Med. 2010 Apr 1;362(13):1181-91. doi: 10.1056/NEJMoa0908094. Epub 2010 Mar 10.

PMID:
20220177
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

PMID:
8862346
[PubMed - indexed for MEDLINE]
3.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Rossor AM, Polke JM, Houlden H, Reilly MM.

Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10. Review.

PMID:
24018473
[PubMed - indexed for MEDLINE]
4.

Correlation between the histopathologic, genotypic, and phenotypic features of hereditary peripheral neuropathies in childhood.

Ouvrier R.

J Child Neurol. 1996 Mar;11(2):133-46. Review.

PMID:
8881991
[PubMed - indexed for MEDLINE]
5.

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance.

Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A.

Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. Review.

PMID:
18257469
[PubMed - indexed for MEDLINE]
6.

Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.

Bassam BA.

J Clin Neuromuscul Dis. 2014 Mar;15(3):117-28. doi: 10.1097/CND.0000000000000020. Review.

PMID:
24534835
[PubMed - indexed for MEDLINE]

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