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Items: 1 to 20 of 112

1.

Computational identification of phospho-tyrosine sub-networks related to acanthocyte generation in neuroacanthocytosis.

De Franceschi L, Scardoni G, Tomelleri C, Danek A, Walker RH, Jung HH, Bader B, Mazzucco S, Dotti MT, Siciliano A, Pantaleo A, Laudanna C.

PLoS One. 2012;7(2):e31015. doi: 10.1371/journal.pone.0031015. Epub 2012 Feb 15.

2.

Abnormal red cell features associated with hereditary neurodegenerative disorders: the neuroacanthocytosis syndromes.

De Franceschi L, Bosman GJ, Mohandas N.

Curr Opin Hematol. 2014 May;21(3):201-9. doi: 10.1097/MOH.0000000000000035. Review.

PMID:
24626044
3.

Erythrocyte membrane changes of chorea-acanthocytosis are the result of altered Lyn kinase activity.

De Franceschi L, Tomelleri C, Matte A, Brunati AM, Bovee-Geurts PH, Bertoldi M, Lasonder E, Tibaldi E, Danek A, Walker RH, Jung HH, Bader B, Siciliano A, Ferru E, Mohandas N, Bosman GJ.

Blood. 2011 Nov 17;118(20):5652-63. doi: 10.1182/blood-2011-05-355339. Epub 2011 Sep 27.

4.

Alterations of red cell membrane properties in neuroacanthocytosis.

Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U.

PLoS One. 2013 Oct 3;8(10):e76715. doi: 10.1371/journal.pone.0076715. eCollection 2013.

5.

[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
6.

Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome.

Peikert K, Danek A, Hermann A.

Eur J Med Genet. 2017 Dec 16. pii: S1769-7212(17)30591-8. doi: 10.1016/j.ejmg.2017.12.007. [Epub ahead of print] Review.

PMID:
29253590
7.

Abnormal red cell structure and function in neuroacanthocytosis.

Cluitmans JC, Tomelleri C, Yapici Z, Dinkla S, Bovee-Geurts P, Chokkalingam V, De Franceschi L, Brock R, Bosman GJ.

PLoS One. 2015 May 1;10(5):e0125580. doi: 10.1371/journal.pone.0125580. eCollection 2015.

8.

Chorein detection for the diagnosis of chorea-acanthocytosis.

Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP.

Ann Neurol. 2004 Aug;56(2):299-302.

PMID:
15293285
9.

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
10.

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
11.

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
12.

Neuroacanthocytosis syndromes.

Jung HH, Danek A, Walker RH.

Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. Review.

13.

Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization.

Stanslowsky N, Reinhardt P, Glass H, Kalmbach N, Naujock M, Hensel N, Lübben V, Pal A, Venneri A, Lupo F, De Franceschi L, Claus P, Sterneckert J, Storch A, Hermann A, Wegner F.

J Neurosci. 2016 Nov 23;36(47):12027-12043.

14.

Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up.

Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, Schön F, Puschmann A, Klempíř J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Sławek J.

Clin Neurol Neurosurg. 2016 Aug;147:78-83. doi: 10.1016/j.clineuro.2016.05.028. Epub 2016 Jun 1.

PMID:
27310290
15.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Schiessl-Weyer J, Roa P, Laccone F, Kluge B, Tichy A, De Almeida Ribeiro E, Prohaska R, Stoeter P, Siegl C, Salzer U.

PLoS One. 2015 Apr 27;10(4):e0125861. doi: 10.1371/journal.pone.0125861. eCollection 2015.

16.

The acanthocyte-echinocyte differential: The example of chorea-acanthocytosis.

Foglia A.

Swiss Med Wkly. 2010 Jul 16;140:w13039. doi: 10.4414/smw.2010.13039.

PMID:
20131113
17.

Clinical features and molecular bases of neuroacanthocytosis.

Rampoldi L, Danek A, Monaco AP.

J Mol Med (Berl). 2002 Aug;80(8):475-91. Epub 2002 Jun 18. Review.

PMID:
12185448
18.

The McLeod syndrome without acanthocytes.

Klempír J, Roth J, Zárubová K, Písacka M, Spacková N, Tilley L.

Parkinsonism Relat Disord. 2008;14(4):364-6. Epub 2007 Sep 17.

PMID:
17870653
19.

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
20.

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

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