Russell MB - Search Results

1

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. Høyer H, et al. Among authors: russell mb. Biomed Res Int. 2015;2015:960404. doi: 10.1155/2015/960404. Epub 2015 Jan 8. Biomed Res Int. 2015. PMID: 25648254 Free PMC article.

2

[Episodic ataxias].

Herrmann A, Braathen GJ, Russell MB. Herrmann A, et al. Among authors: russell mb. Tidsskr Nor Laegeforen. 2005 Aug 11;125(15):2005-7. Tidsskr Nor Laegeforen. 2005. PMID: 16100538 Free article. Review. Norwegian.

3

[Cerebral cavernous malformations].

Koht J, Braathen GJ, Neubert D, Russell MB. Koht J, et al. Among authors: russell mb. Tidsskr Nor Laegeforen. 2005 Aug 11;125(15):2008-10. Tidsskr Nor Laegeforen. 2005. PMID: 16100539 Free article. Review. Norwegian.

4

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Braathen GJ, Sand JC, Bukholm G, Russell MB. Braathen GJ, et al. Among authors: russell mb. BMC Neurol. 2007 Jul 9;7:19. doi: 10.1186/1471-2377-7-19. BMC Neurol. 2007. PMID: 17620124 Free PMC article.

5

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. Braathen GJ, et al. Among authors: russell mb. BMC Med Genet. 2010 Mar 29;11:48. doi: 10.1186/1471-2350-11-48. BMC Med Genet. 2010. PMID: 20350294 Free PMC article.

6

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.

Braathen GJ, Sand JC, Russell MB. Braathen GJ, et al. Among authors: russell mb. BMC Res Notes. 2010 Apr 12;3:99. doi: 10.1186/1756-0500-3-99. BMC Res Notes. 2010. PMID: 20385006 Free PMC article.

7

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

Høyer H, Braathen GJ, Eek AK, Skjelbred CF, Russell MB. Høyer H, et al. Among authors: russell mb. Eur J Med Genet. 2011 Nov-Dec;54(6):e580-3. doi: 10.1016/j.ejmg.2011.06.006. Epub 2011 Jul 18. Eur J Med Genet. 2011. PMID: 21787890

8

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. Høyer H, et al. Among authors: russell mb. Biomed Res Int. 2014;2014:210401. doi: 10.1155/2014/210401. Epub 2014 Jun 16. Biomed Res Int. 2014. PMID: 25025039 Free PMC article.

9

Hereditary peripheral neuropathies diagnosed by next-generation sequencing.

Høyer H, Busk ØL, Holla ØL, Strand L, Russell MB, Skjelbred CF, Braathen GJ. Høyer H, et al. Among authors: russell mb. Tidsskr Nor Laegeforen. 2015 Nov 3;135(20):1838-44. doi: 10.4045/tidsskr.14.1002. eCollection 2015 Nov 3. Tidsskr Nor Laegeforen. 2015. PMID: 26534810 Free article. English, Norwegian.

10

Corrigendum to "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. Høyer H, et al. Among authors: russell mb. Biomed Res Int. 2015;2015:314651. doi: 10.1155/2015/314651. Epub 2015 Oct 8. Biomed Res Int. 2015. PMID: 26558264 Free PMC article. No abstract available.

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