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Items: 1 to 20 of 137

1.

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB.

Biomed Res Int. 2014;2014:210401. doi: 10.1155/2014/210401. Epub 2014 Jun 16. Erratum in: Biomed Res Int. 2015;2015:314651.

2.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
3.

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.

4.

Copy number variations in a population-based study of Charcot-Marie-Tooth disease.

Høyer H, Braathen GJ, Eek AK, Nordang GB, Skjelbred CF, Russell MB.

Biomed Res Int. 2015;2015:960404. doi: 10.1155/2015/960404. Epub 2015 Jan 8.

5.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H.

Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21.

6.

Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

Braathen GJ, Høyer H, Busk ØL, Tveten K, Skjelbred CF, Russell MB.

Acta Neurol Scand. 2016 Jul;134(1):67-75. doi: 10.1111/ane.12515. Epub 2015 Oct 12.

7.

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø.

BMC Med Genet. 2013 Sep 21;14:94. doi: 10.1186/1471-2350-14-94.

8.

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.

Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martínez A, Martínez F, Millán JM, Arpa J, Vílchez JJ, Prieto F, Van Broeckhoven C, Palau F.

Hum Genet. 1997 Jun;99(6):746-54.

PMID:
9187667
9.

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB.

BMC Med Genet. 2010 Mar 29;11:48. doi: 10.1186/1471-2350-11-48.

10.

Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.

Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K.

Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29.

PMID:
25850958
11.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
12.

[Genetic diagnosis and molecular pathology of inherited neuropathy].

Takashima H.

Rinsho Shinkeigaku. 2012;52(6):399-404. Review. Japanese.

PMID:
22790800
13.

Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Palffy R, Kadasi L.

Gen Physiol Biophys. 2011 Dec;30(4):379-88. doi: 10.4149/gpb_2011_04_379.

PMID:
22131320
14.

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Abe A, Numakura C, Kijima K, Hayashi M, Hashimoto T, Hayasaka K.

J Hum Genet. 2011 May;56(5):364-8. doi: 10.1038/jhg.2011.20. Epub 2011 Feb 17. Erratum in: J Hum Genet. 2011 Oct;56(10):751.

PMID:
21326314
15.

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V, García-García F, Sancho P, Tello C, García-Romero M, Villarreal L, Alberti A, Sivera R, Dopazo J, Pascual-Pascual SI, Márquez-Infante C, Casasnovas C, Sevilla T, Espinós C.

J Mol Diagn. 2016 Mar;18(2):225-34. doi: 10.1016/j.jmoldx.2015.10.005. Epub 2016 Jan 2.

PMID:
26752306
16.

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
17.

Genetic epidemiology of Charcot-Marie-Tooth in the general population.

Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB.

Eur J Neurol. 2011 Jan;18(1):39-48. doi: 10.1111/j.1468-1331.2010.03037.x.

PMID:
20482598
18.
19.

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S.

Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.

20.

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.

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