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Results: 1 to 20 of 169

Similar articles for PubMed (Select 18584183)

1.

A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A.

Ishida C, Makifuchi T, Saiki S, Hirose G, Yamada M.

Acta Neuropathol. 2009 Jan;117(1):85-94. doi: 10.1007/s00401-008-0403-1. Epub 2008 Jun 27.

PMID:
18584183
2.

Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.

Ichiba M, Nakamura M, Kusumoto A, Mizuno E, Kurano Y, Matsuda M, Kato M, Agemura A, Tomemori Y, Muroya S, Nakabeppu Y, Sano A.

J Neurol Sci. 2007 Dec 15;263(1-2):124-32. Epub 2007 Aug 1.

PMID:
17673232
3.

Immunocytochemical studies of substance P and leucine-enkephalin in Huntington's disease.

Marshall PE, Landis DM, Zalneraitis EL.

Brain Res. 1983 Dec 19;289(1-2):11-26.

PMID:
6198034
4.

Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study.

Henkel K, Danek A, Grafman J, Butman J, Kassubek J.

Mov Disord. 2006 Oct;21(10):1728-31.

PMID:
16874760
5.

Chorein, the protein responsible for chorea-acanthocytosis, interacts with β-adducin and β-actin.

Shiokawa N, Nakamura M, Sameshima M, Deguchi A, Hayashi T, Sasaki N, Sano A.

Biochem Biophys Res Commun. 2013 Nov 8;441(1):96-101. doi: 10.1016/j.bbrc.2013.10.011. Epub 2013 Oct 12.

PMID:
24129186
6.

Choreoacanthocytosis in a Mexican family.

Ruiz-Sandoval JL, García-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martínez JJ, Barrera-Chairez E, Rodríguez-Figueroa EI, Pérez-García G.

Arch Neurol. 2007 Nov;64(11):1661-4.

PMID:
17998451
7.

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupré N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzińska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jul;156B(5):620-31. doi: 10.1002/ajmg.b.31206. Epub 2011 May 19.

PMID:
21598378
8.

[Chorea-acanthocytosis without acanthocytes].

Bayreuther C, Borg M, Ferrero-Vacher C, Chaussenot A, Lebrun C.

Rev Neurol (Paris). 2010 Jan;166(1):100-3. doi: 10.1016/j.neurol.2009.03.005. Epub 2009 Jun 3. French.

PMID:
19497603
9.

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis.

Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP.

Neurogenetics. 2005 Sep;6(3):151-8. Epub 2005 Sep 28.

PMID:
15918062
10.

Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations.

Miki Y, Nishie M, Ichiba M, Nakamura M, Mori F, Ogawa M, Kaimori M, Sano A, Wakabayashi K.

Acta Neuropathol. 2010 Feb;119(2):271-3. doi: 10.1007/s00401-009-0617-x. Epub 2009 Dec 1. No abstract available.

PMID:
19949804
11.

Eye movements in chorea-acanthocytosis.

Gradstein L, Danek A, Grafman J, Fitzgibbon EJ.

Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1979-87.

PMID:
15914612
12.

Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.

Saiki S, Sakai K, Kitagawa Y, Saiki M, Kataoka S, Hirose G.

Neurology. 2003 Dec 9;61(11):1614-6. Erratum in: Neurology. 2011 Aug 16;77(7):701.

PMID:
14663054
13.

Dominant transmission of chorea-acanthocytosis with VPS13A mutations remains speculative.

Bader B, Velayos-Baeza A, Walker RH, Danek A.

Acta Neuropathol. 2009 Jan;117(1):95-6; author reply 97-8. doi: 10.1007/s00401-008-0418-7. Epub 2008 Jul 26. No abstract available.

PMID:
18661137
14.

Neuropathological study of chorea-acanthocytosis.

Iwata M, Fuse S, Sakuta M, Toyokura Y.

Jpn J Med. 1984 May;23(2):118-22.

15.

The neuropathological features of neuroacanthocytosis.

Rinne JO, Daniel SE, Scaravilli F, Pires M, Harding AE, Marsden CD.

Mov Disord. 1994 May;9(3):297-304. Review.

PMID:
8041370
16.

Shape alterations in the striatum in chorea-acanthocytosis.

Walterfang M, Looi JC, Styner M, Walker RH, Danek A, Niethammer M, Evans A, Kotschet K, Rodrigues GR, Hughes A, Velakoulis D.

Psychiatry Res. 2011 Apr 30;192(1):29-36. doi: 10.1016/j.pscychresns.2010.10.006. Epub 2011 Mar 5.

17.

Primary skeletal muscle involvement in chorea-acanthocytosis.

Saiki S, Sakai K, Murata KY, Saiki M, Nakanishi M, Kitagawa Y, Kaito M, Gondo Y, Kumamoto T, Matsui M, Hattori N, Hirose G.

Mov Disord. 2007 Apr 30;22(6):848-52.

PMID:
17345646
18.

[An autopsy case of chorea-acanthocytosis. Special reference to the histopathological and biochemical findings of basal ganglia].

Sato Y, Ohnishi A, Tateishi J, Onizuka Y, Ishimoto S, Iwashita H, Kuroiwa Y, Kanazawa I.

No To Shinkei. 1984 Feb;36(2):105-11. Japanese.

PMID:
6203544
19.

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP.

Eur J Hum Genet. 2002 Nov;10(11):773-81.

20.

A gene-targeted mouse model for chorea-acanthocytosis.

Tomemori Y, Ichiba M, Kusumoto A, Mizuno E, Sato D, Muroya S, Nakamura M, Kawaguchi H, Yoshida H, Ueno S, Nakao K, Nakamura K, Aiba A, Katsuki M, Sano A.

J Neurochem. 2005 Feb;92(4):759-66.

PMID:
15686477
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