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Results: 1 to 20 of 168

Similar articles for PubMed (Select 17673232)

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
7.

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.

Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E.

Epilepsia. 2005 Aug;46(8):1256-63.

PMID:
16060937
8.

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
9.

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.

Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP.

Mov Disord. 2003 Apr;18(4):403-7.

PMID:
12671946
10.

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
11.

[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
12.

Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.

Shimo H, Nakamura M, Tomiyasu A, Ichiba M, Ueno S, Sano A.

Neurosci Res. 2011 Mar;69(3):196-202. doi: 10.1016/j.neures.2010.12.001. Epub 2010 Dec 9.

PMID:
21145924
13.

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.

14.

Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred.

Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH.

Arch Neurol. 2011 Oct;68(10):1330-3. doi: 10.1001/archneurol.2011.239.

PMID:
21987550
15.

Brain-specific transcript variants of 5' and 3' ends of mouse VPS13A and VPS13C.

Mizuno E, Nakamura M, Agemura A, Kusumoto A, Ichiba M, Kurano Y, Muroya S, Sano A.

Biochem Biophys Res Commun. 2007 Feb 23;353(4):902-7. Epub 2006 Dec 22.

PMID:
17196930
16.

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P.

Neurology. 2007 Jul 24;69(4):368-75.

PMID:
17646629
17.

Early clinical heterogeneity in choreoacanthocytosis.

Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V.

Arch Neurol. 2005 Apr;62(4):611-4.

PMID:
15824261
18.

McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.

Jung HH, Hergersberg M, Vogt M, Pahnke J, Treyer V, Röthlisberger B, Kollias SS, Russo D, Frey BM.

Transfusion. 2003 Jul;43(7):928-38.

PMID:
12823753
19.

Chorea-acanthocytosis: report of two Brazilian cases.

Rodrigues GR, Walker RH, Bader B, Danek A, Marques W Jr, Tumas V.

Mov Disord. 2008 Oct 30;23(14):2090-3. doi: 10.1002/mds.22305.

PMID:
18785241
20.

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
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