Freidin M - Search Results

1

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.

Abrams CK, Freidin M, Bukauskas F, Dobrenis K, Bargiello TA, Verselis VK, Bennett MV, Chen L, Sahenk Z. Abrams CK, et al. Among authors: freidin m. J Neurosci. 2003 Nov 19;23(33):10548-58. doi: 10.1523/JNEUROSCI.23-33-10548.2003. J Neurosci. 2003. PMID: 14627639 Free PMC article.

2

Cultured sympathetic neurons synthesize and release the cytokine interleukin 1 beta.

Freidin M, Bennett MV, Kessler JA. Freidin M, et al. Proc Natl Acad Sci U S A. 1992 Nov 1;89(21):10440-3. doi: 10.1073/pnas.89.21.10440. Proc Natl Acad Sci U S A. 1992. PMID: 1279679 Free PMC article.

3

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease.

Abrams CK, Freidin MM, Verselis VK, Bennett MV, Bargiello TA. Abrams CK, et al. Among authors: freidin mm. Brain Res. 2001 May 4;900(1):9-25. doi: 10.1016/s0006-8993(00)03327-8. Brain Res. 2001. PMID: 11325342 Free PMC article.

4

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MV, Bukauskas FF. Abrams CK, et al. Among authors: freidin mm. Proc Natl Acad Sci U S A. 2006 Mar 28;103(13):5213-8. doi: 10.1073/pnas.0511091103. Epub 2006 Mar 20. Proc Natl Acad Sci U S A. 2006. PMID: 16549784 Free PMC article.

5

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

Orthmann-Murphy JL, Freidin M, Fischer E, Scherer SS, Abrams CK. Orthmann-Murphy JL, et al. Among authors: freidin m. J Neurosci. 2007 Dec 19;27(51):13949-57. doi: 10.1523/JNEUROSCI.3395-07.2007. J Neurosci. 2007. PMID: 18094232 Free PMC article.

6

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Orthmann-Murphy JL, Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D. Orthmann-Murphy JL, et al. Among authors: freidin mm. Brain. 2009 Feb;132(Pt 2):426-38. doi: 10.1093/brain/awn328. Epub 2008 Dec 4. Brain. 2009. PMID: 19056803 Free PMC article.

7

Connexin 32 increases the proliferative response of Schwann cells to neuregulin-1 (Nrg1).

Freidin M, Asche S, Bargiello TA, Bennett MV, Abrams CK. Freidin M, et al. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3567-72. doi: 10.1073/pnas.0813413106. Epub 2009 Feb 13. Proc Natl Acad Sci U S A. 2009. PMID: 19218461 Free PMC article.

8

Functional requirement for a highly conserved charged residue at position 75 in the gap junction protein connexin 32.

Abrams CK, Islam M, Mahmoud R, Kwon T, Bargiello TA, Freidin MM. Abrams CK, et al. Among authors: freidin mm. J Biol Chem. 2013 Feb 1;288(5):3609-19. doi: 10.1074/jbc.M112.392670. Epub 2012 Dec 3. J Biol Chem. 2013. PMID: 23209285 Free PMC article.

9

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Caramins M, Colebatch JG, Bainbridge MN, Scherer SS, Abrams CK, Hackett EL, Freidin MM, Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA. Caramins M, et al. Among authors: freidin mm. Hum Mol Genet. 2013 Nov 1;22(21):4329-38. doi: 10.1093/hmg/ddt282. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773993 Free PMC article.

10

A new mutation in GJC2 associated with subclinical leukodystrophy.

Abrams CK, Scherer SS, Flores-Obando R, Freidin MM, Wong S, Lamantea E, Farina L, Scaioli V, Pareyson D, Salsano E. Abrams CK, et al. Among authors: freidin mm. J Neurol. 2014 Oct;261(10):1929-38. doi: 10.1007/s00415-014-7429-1. Epub 2014 Jul 25. J Neurol. 2014. PMID: 25059390 Free PMC article.

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