Brophy PJ - Search Results

1

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: brophy pj. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

2

The function of the Periaxin gene during nerve repair in a model of CMT4F.

Williams AC, Brophy PJ. Williams AC, et al. Among authors: brophy pj. J Anat. 2002 Apr;200(4):323-30. doi: 10.1046/j.1469-7580.2002.00038.x. J Anat. 2002. PMID: 12090399 Free PMC article. Review.

3

A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.

Sherman DL, Brophy PJ. Sherman DL, et al. Among authors: brophy pj. Wellcome Open Res. 2018 Mar 1;3:20. doi: 10.12688/wellcomeopenres.13673.1. eCollection 2018. Wellcome Open Res. 2018. PMID: 29623298 Free PMC article.

4

A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin.

Sherman DL, Brophy PJ. Sherman DL, et al. Among authors: brophy pj. J Biol Chem. 2000 Feb 18;275(7):4537-40. doi: 10.1074/jbc.275.7.4537. J Biol Chem. 2000. PMID: 10671475 Free article.

5

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I. Kabzinska D, et al. Among authors: brophy pj. Neurology. 2006 Mar 14;66(5):745-7. doi: 10.1212/01.wnl.0000201269.46071.35. Neurology. 2006. PMID: 16534116

6

Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A. Previtali SC, et al. Among authors: brophy pj. Hum Mol Genet. 2003 Jul 15;12(14):1713-23. doi: 10.1093/hmg/ddg179. Hum Mol Genet. 2003. PMID: 12837694

7

Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment.

Gillespie CS, Sherman DL, Blair GE, Brophy PJ. Gillespie CS, et al. Among authors: brophy pj. Neuron. 1994 Mar;12(3):497-508. doi: 10.1016/0896-6273(94)90208-9. Neuron. 1994. PMID: 8155317

8

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy.

Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ. Sherman DL, et al. Among authors: brophy pj. Neuron. 2001 Jun;30(3):677-87. doi: 10.1016/s0896-6273(01)00327-0. Neuron. 2001. PMID: 11430802 Free article.

9

Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells.

Dytrych L, Sherman DL, Gillespie CS, Brophy PJ. Dytrych L, et al. Among authors: brophy pj. J Biol Chem. 1998 Mar 6;273(10):5794-800. doi: 10.1074/jbc.273.10.5794. J Biol Chem. 1998. PMID: 9488714 Free article.

10

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME. Brennan KM, et al. Among authors: brophy pj. Neuromuscul Disord. 2015 Oct;25(10):786-93. doi: 10.1016/j.nmd.2015.07.001. Epub 2015 Jul 7. Neuromuscul Disord. 2015. PMID: 26227883 Free PMC article.

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