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Items: 1 to 20 of 105

1.

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O.

Ann Neurol. 2012 Apr;71(4):569-72. doi: 10.1002/ana.23524.

PMID:
22522446
2.

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.

Ferrier A, Sato T, De Repentigny Y, Gibeault S, Bhanot K, O'Meara RW, Lynch-Godrei A, Kornfeld SF, Young KG, Kothary R.

Hum Mol Genet. 2014 May 15;23(10):2694-710. doi: 10.1093/hmg/ddt663. Epub 2013 Dec 30.

3.

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B.

Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22.

PMID:
26542466
4.

Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice.

Ferrier A, De Repentigny Y, Lynch-Godrei A, Gibeault S, Eid W, Kuo D, Zha X, Kothary R.

Autophagy. 2015;11(7):1025-36. doi: 10.1080/15548627.2015.1052207.

5.

Disruption of actin-binding domain-containing Dystonin protein causes dystonia musculorum in mice.

Horie M, Watanabe K, Bepari AK, Nashimoto J, Araki K, Sano H, Chiken S, Nambu A, Ono K, Ikenaka K, Kakita A, Yamamura K, Takebayashi H.

Eur J Neurosci. 2014 Nov;40(10):3458-71. doi: 10.1111/ejn.12711. Epub 2014 Sep 6.

PMID:
25195653
6.

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L.

Neurology. 2017 May 30;88(22):2132-2140. doi: 10.1212/WNL.0000000000003992. Epub 2017 May 3.

PMID:
28468842
7.

Trafficking of macromolecules and organelles in cultured Dystonia musculorum sensory neurons is normal.

Pool M, Rippstein P, McBride H, Kothary R.

J Comp Neurol. 2006 Feb 1;494(4):549-58.

PMID:
16374799
8.

Cloning and characterization of the neural isoforms of human dystonin.

Brown A, Dalpé G, Mathieu M, Kothary R.

Genomics. 1995 Oct 10;29(3):777-80.

PMID:
8575775
9.

Genetic alterations at the Bpag1 locus in dt mice and their impact on transcript expression.

Pool M, Boudreau Larivière C, Bernier G, Young KG, Kothary R.

Mamm Genome. 2005 Dec;16(12):909-17. Epub 2005 Dec 8.

PMID:
16341670
10.

Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.

Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B.

Neurology. 2005 May 24;64(10):1762-7.

PMID:
15911806
11.

Dystonin is essential for maintaining neuronal cytoskeleton organization.

Dalpé G, Leclerc N, Vallée A, Messer A, Mathieu M, De Repentigny Y, Kothary R.

Mol Cell Neurosci. 1998 Apr;10(5-6):243-57.

PMID:
9604204
12.

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.

Cho HJ, Kim BJ, Suh YL, An JY, Ki CS.

J Hum Genet. 2006;51(10):905-8. Epub 2006 Sep 1.

PMID:
16946995
13.

Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons.

Young KG, Kothary R.

Exp Cell Res. 2008 Sep 10;314(15):2750-61. doi: 10.1016/j.yexcr.2008.06.021. Epub 2008 Jul 3.

PMID:
18638474
14.

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.

Brain. 2009 Oct;132(Pt 10):2699-711. doi: 10.1093/brain/awp198. Epub 2009 Aug 3.

15.

Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin binding proteins.

Bernier G, Mathieu M, De Repentigny Y, Vidal SM, Kothary R.

Genomics. 1996 Nov 15;38(1):19-29.

PMID:
8954775
16.

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.

Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, Verpoorten N, Laurà M, Scaioli V, Salmhofer W, Pieber TR, Nelis E, De Jonghe P, Timmerman V.

Neurology. 2006 Mar 14;66(5):748-51.

PMID:
16534117
17.

Functional and Genetic Analysis of Neuronal Isoforms of BPAG1.

Lynch-Godrei A, Kothary R.

Methods Enzymol. 2016;569:355-72. doi: 10.1016/bs.mie.2015.05.004. Epub 2015 Jun 1. Review.

PMID:
26778567
18.

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA.

Br J Dermatol. 2015 Feb;172(2):527-31. doi: 10.1111/bjd.13294. Epub 2014 Dec 30.

PMID:
25059916
19.

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.

Takagi M, Ozawa T, Hara K, Naruse S, Ishihara T, Shimbo J, Igarashi S, Tanaka K, Onodera O, Nishizawa M.

Neurology. 2006 Apr 25;66(8):1251-2.

PMID:
16636245
20.

Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J.

Bernier G, Brown A, Dalpé G, Mathieu M, De Repentigny Y, Kothary R.

Biochem Cell Biol. 1995 Sep-Oct;73(9-10):605-9.

PMID:
8714679

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