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Items: 1 to 20 of 40

1.

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Benninger F, Afawi Z, Korczyn AD, Oliver KL, Pendziwiat M, Nakamura M, Sano A, Helbig I, Berkovic SF, Blatt I.

Epilepsia. 2016 Apr;57(4):549-56. doi: 10.1111/epi.13318. Epub 2016 Jan 27.

2.

Chorein Sensitive Arrangement of Cytoskeletal Architecture.

Honisch S, Gu S, Vom Hagen JM, Alkahtani S, Al Kahtane AA, Tsapara A, Hermann A, Storch A, Schöls L, Lang F, Stournaras C.

Cell Physiol Biochem. 2015;37(1):399-408. doi: 10.1159/000430363. Epub 2015 Aug 27.

3.

Chorein addiction in VPS13A overexpressing rhabdomyosarcoma cells.

Honisch S, Yu W, Liu G, Alesutan I, Towhid ST, Tsapara A, Schleicher S, Handgretinger R, Stournaras C, Lang F.

Oncotarget. 2015 Apr 30;6(12):10309-19.

4.

Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation.

Ogawa I, Saigoh K, Hirano M, Mtsui Y, Sugioka K, Takahashi J, Shimomura Y, Tani Y, Nakamura Y, Kusunoki S.

Parkinsonism Relat Disord. 2013 Oct;19(10):913-5. doi: 10.1016/j.parkreldis.2013.05.012. Epub 2013 Jun 5. No abstract available.

PMID:
23746940
5.

Chorein sensitivity of cytoskeletal organization and degranulation of platelets.

Schmidt EM, Schmid E, Münzer P, Hermann A, Eyrich AK, Russo A, Walker B, Gu S, vom Hagen JM, Faggio C, Schaller M, Föller M, Schöls L, Gawaz M, Borst O, Storch A, Stournaras C, Lang F.

FASEB J. 2013 Jul;27(7):2799-806. doi: 10.1096/fj.13-229286. Epub 2013 Apr 8.

6.

Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis.

Föller M, Hermann A, Gu S, Alesutan I, Qadri SM, Borst O, Schmidt EM, Schiele F, vom Hagen JM, Saft C, Schöls L, Lerche H, Stournaras C, Storch A, Lang F.

FASEB J. 2012 Apr;26(4):1526-34. doi: 10.1096/fj.11-198317. Epub 2012 Jan 6.

PMID:
22227296
7.

Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.

Walker RH, Schulz VP, Tikhonova IR, Mahajan MC, Mane S, Arroyo Muniz M, Gallagher PG.

Mov Disord. 2012 Apr;27(4):539-43. doi: 10.1002/mds.24020. Epub 2011 Oct 28.

PMID:
22038564
8.

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.

9.

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
10.

Chorea-Acanthocytosis.

Velayos Baeza A, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Jun 14 [updated 2014 Jan 30].

11.

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
12.

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
13.

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
14.

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
15.

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.

Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A.

Nat Genet. 2001 Jun;28(2):121-2.

PMID:
11381254
16.

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP.

Am J Hum Genet. 1997 Oct;61(4):899-908.

17.

Chorein Sensitive Orai1 Expression and Store Operated Ca2+ Entry in Rhabdomyosarcoma Cells.

Yu W, Honisch S, Schmidt S, Yan J, Schmid E, Alkahtani S, AlKahtane AA, Alarifi S, Stournaras C, Lang F.

Cell Physiol Biochem. 2016;40(5):1141-1152. Epub 2016 Dec 14.

18.

Frameshift mutations of vacuolar protein sorting genes in gastric and colorectal cancers with microsatellite instability.

An CH, Kim YR, Kim HS, Kim SS, Yoo NJ, Lee SH.

Hum Pathol. 2012 Jan;43(1):40-7. doi: 10.1016/j.humpath.2010.03.015. Epub 2011 Jul 5.

PMID:
21733561
19.

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP.

Nat Genet. 2001 Jun;28(2):119-20.

PMID:
11381253
20.

TipC and the chorea-acanthocytosis protein VPS13A regulate autophagy in Dictyostelium and human HeLa cells.

Muñoz-Braceras S, Calvo R, Escalante R.

Autophagy. 2015;11(6):918-27. doi: 10.1080/15548627.2015.1034413.

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