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Items: 15

1.

Functional Translational Readthrough: A Systems Biology Perspective.

Schueren F, Thoms S.

PLoS Genet. 2016 Aug 4;12(8):e1006196. doi: 10.1371/journal.pgen.1006196. eCollection 2016 Aug. Review.

2.

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, Bacon C, Finkel RS, Yum SW, Moroni I, Piscosquito G, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium - Rare Disease Clinical Research Consortium (INC-RDCRC).

Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.

PMID:
26310628
3.

P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.

Avila RL, D'Antonio M, Bachi A, Inouye H, Feltri ML, Wrabetz L, Kirschner DA.

J Biol Chem. 2010 Dec 31;285(53):42001-12. doi: 10.1074/jbc.M110.166967. Epub 2010 Oct 11.

4.

Single-spanning transmembrane domains in cell growth and cell-cell interactions: More than meets the eye?

Hubert P, Sawma P, Duneau JP, Khao J, Hénin J, Bagnard D, Sturgis J.

Cell Adh Migr. 2010 Apr-Jun;4(2):313-24. doi: 10.4161/cam.4.2.12430. Epub 2010 Apr 20. Review.

5.

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice.

Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, Quattrini A, Feltri ML, Wrabetz L.

Neuron. 2008 Feb 7;57(3):393-405. doi: 10.1016/j.neuron.2007.12.021.

6.

Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants.

Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR.

Am J Hum Genet. 2005 Nov;77(5):841-50. Epub 2005 Sep 30.

7.

Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.

Rünker AE, Kobsar I, Fink T, Loers G, Tilling T, Putthoff P, Wessig C, Martini R, Schachner M.

J Cell Biol. 2004 May 24;165(4):565-73. Epub 2004 May 17.

9.

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR.

Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557.

10.

Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.

Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C.

J Neurol Neurosurg Psychiatry. 2000 Dec;69(6):799-805.

11.

Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.

J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9.

12.

Animal models for inherited peripheral neuropathies.

Martini R.

J Anat. 1997 Oct;191 ( Pt 3):321-36. Review.

14.

Investigation of peripheral neuropathy.

McLeod JG.

J Neurol Neurosurg Psychiatry. 1995 Mar;58(3):274-83. Review. No abstract available.

15.

Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.

Nicholson G.

J Neurol Neurosurg Psychiatry. 1995 May;58(5):523-5. Review. No abstract available.

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