Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 17

1.

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH.

Am J Hum Genet. 2013 May 2;92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25.

2.

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM.

Neuromuscul Disord. 2013 May;23(5):399-403. doi: 10.1016/j.nmd.2013.01.010. Epub 2013 Mar 13.

PMID:
23489662
3.

Fig4 deficiency: a newly emerged lysosomal storage disorder?

Martyn C, Li J.

Prog Neurobiol. 2013 Feb-Mar;101-102:35-45. doi: 10.1016/j.pneurobio.2012.11.001. Epub 2012 Nov 16. Review.

4.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH.

Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148.

5.

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

Katona I, Zhang X, Bai Y, Shy ME, Guo J, Yan Q, Hatfield J, Kupsky WJ, Li J.

Eur J Neurosci. 2011 Apr;33(8):1401-10. doi: 10.1111/j.1460-9568.2011.07651.x. Epub 2011 Mar 17.

PMID:
21410794
6.

Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function.

Manford A, Xia T, Saxena AK, Stefan C, Hu F, Emr SD, Mao Y.

EMBO J. 2010 May 5;29(9):1489-98. doi: 10.1038/emboj.2010.57. Epub 2010 Apr 13. Erratum in: EMBO J. 2010 Jul 21;29(14):2472.

7.

Diagnosis and new treatments in genetic neuropathies.

Reilly MM, Shy ME.

J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1304-14. doi: 10.1136/jnnp.2008.158295. Review.

PMID:
19917815
8.

Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.

Pareyson D, Marchesi C.

Lancet Neurol. 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3. Review.

PMID:
19539237
9.

Phosphatidylinositol 3,5-bisphosphate and Fab1p/PIKfyve underPPIn endo-lysosome function.

Dove SK, Dong K, Kobayashi T, Williams FK, Michell RH.

Biochem J. 2009 Apr 1;419(1):1-13. doi: 10.1042/BJ20081950. Review.

PMID:
19272020
10.

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH.

Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.

11.

Long-term results of reconstruction for treatment of a flexible cavovarus foot in Charcot-Marie-Tooth disease.

Ward CM, Dolan LA, Bennett DL, Morcuende JA, Cooper RR.

J Bone Joint Surg Am. 2008 Dec;90(12):2631-42. doi: 10.2106/JBJS.G.01356.

12.

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

Jin N, Chow CY, Liu L, Zolov SN, Bronson R, Davisson M, Petersen JL, Zhang Y, Park S, Duex JE, Goldowitz D, Meisler MH, Weisman LS.

EMBO J. 2008 Dec 17;27(24):3221-34. doi: 10.1038/emboj.2008.248. Epub 2008 Nov 27.

13.

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J.

Brain. 2008 Aug;131(Pt 8):1990-2001. doi: 10.1093/brain/awn114. Epub 2008 Jun 12.

14.

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.

Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.

15.

The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease.

Guyton GP, Mann RA.

Foot Ankle Clin. 2000 Jun;5(2):317-26. Review.

PMID:
11232233
16.

Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis.

Lewis RA, Sumner AJ, Shy ME.

Muscle Nerve. 2000 Oct;23(10):1472-87. Review.

PMID:
11003782
17.

Profiles of neuromuscular diseases. Hereditary motor and sensory neuropathy, types I and II.

Carter GT, Abresch RT, Fowler WM Jr, Johnson ER, Kilmer DD, McDonald CM.

Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S140-9.

PMID:
7576421

Supplemental Content

Support Center