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Items: 1 to 20 of 229

1.

Proceedings of the Ninth International Meeting on Neuroacanthocytosis Syndromes.

[No authors listed]

Tremor Other Hyperkinet Mov (N Y). 2018 Jul 17;8:579. doi: 10.7916/D8ZC9KCW. eCollection 2018. No abstract available.

2.

Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.

Nagata O, Nakamura M, Sakimoto H, Urata Y, Sasaki N, Shiokawa N, Sano A.

Biochem Biophys Res Commun. 2018 Sep 5;503(2):915-920. doi: 10.1016/j.bbrc.2018.06.096. Epub 2018 Jun 21.

PMID:
29928881
3.

Pallidal Deep Brain Stimulation in Patients With Chorea-Acanthocytosis.

Liu Z, Liu Y, Wan X, Yang Y, Wang L, Dou W, Guo J, Wang Y, Guo Y, Ma W, Wang R.

Neuromodulation. 2018 Dec;21(8):741-747. doi: 10.1111/ner.12763. Epub 2018 Apr 10.

PMID:
29635714
4.

Striking lack of visualization of striatum on 18F-FDG brain PET in chorea-acanthocytosis.

López-Mora DA, Camacho V, Fernández A, Granell E, Carrió I.

Eur J Nucl Med Mol Imaging. 2018 Mar;45(3):511-512. doi: 10.1007/s00259-017-3905-z. Epub 2017 Dec 15. No abstract available.

PMID:
29242959
5.

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.

Anderson DG, Carmona S, Naidoo K, Coetzer TL, Carr J, Rudnicki DD, Walker RH, Margolis RL, Krause A.

Tremor Other Hyperkinet Mov (N Y). 2017 Dec 5;7:512. doi: 10.7916/D81J9PDX. eCollection 2017.

6.

Acanthocytes in the McLeod phenotype of X-linked chronic granulomatous disease.

Beaulieu GP, Ward DC, Panch SR, Flegel WA.

Transfusion. 2017 Oct;57(10):2307-2308. doi: 10.1111/trf.14119. No abstract available.

7.

Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease.

Rzepnikowska W, Flis K, Muñoz-Braceras S, Menezes R, Escalante R, Zoladek T.

Traffic. 2017 Nov;18(11):711-719. doi: 10.1111/tra.12523. Epub 2017 Sep 24. Review.

8.

Lithium Sensitivity of Store Operated Ca2+ Entry and Survival of Fibroblasts Isolated from Chorea-Acanthocytosis Patients.

Pelzl L, Elsir B, Sahu I, Bissinger R, Singh Y, Sukkar B, Honisch S, Schoels L, Jemaà M, Lang E, Storch A, Hermann A, Stournaras C, Lang F.

Cell Physiol Biochem. 2017;42(5):2066-2077. doi: 10.1159/000479901. Epub 2017 Aug 11.

9.

Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis.

Dubbioso R, Esposito M, Peluso S, Iodice R, De Michele G, Santoro L, Manganelli F.

Neurosci Lett. 2017 Jul 27;654:107-110. doi: 10.1016/j.neulet.2017.06.032. Epub 2017 Jun 20.

PMID:
28645789
10.

Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome.

Gassner C, Brönnimann C, Merki Y, Mattle-Greminger MP, Sigurdardottir S, Meyer E, Engström C, O'Sullivan JD, Jung HH, Frey BM.

Transfusion. 2017 Sep;57(9):2125-2135. doi: 10.1111/trf.14172. Epub 2017 May 28.

PMID:
28555782
11.

Chorea-acanthocytosis without chorea: Expanding the clinical phenotype.

Peluso S, Bilo L, Esposito M, Antenora A, De Rosa A, Pappatà S, De Michele G.

Parkinsonism Relat Disord. 2017 Aug;41:124-126. doi: 10.1016/j.parkreldis.2017.05.013. Epub 2017 May 17. No abstract available.

PMID:
28551324
12.

Chorea and Orofaciolingual Dystonia in a 40 Year Old Male.

Sahoo LK, Swain KP, Mallick AK, Mohanty G, Samanta M, Sahoo SK.

J Assoc Physicians India. 2017 Apr;65(4):93-94.

PMID:
28527175
13.

An Interesting Case of a Movement Disorder.

Ganesamoorthy K, Surendran R, Jamunarani K, Akila A, Selvakumar CJ, Suganthi G, Shalini M, Usha.

J Assoc Physicians India. 2017 Mar;65(3):92-94.

PMID:
28462554
14.

Amino acid substitution equivalent to human chorea-acanthocytosis I2771R in yeast Vps13 protein affects its binding to phosphatidylinositol 3-phosphate.

Rzepnikowska W, Flis K, Kaminska J, Grynberg M, Urbanek A, Ayscough KR, Zoladek T.

Hum Mol Genet. 2017 Apr 15;26(8):1497-1510. doi: 10.1093/hmg/ddx054.

15.

Drug-induced endovesiculation of erythrocytes is modulated by the dynamics in the cytoskeleton/membrane interaction.

Oberwagner W, Sauer T, Hermann A, Prohaska R, Müllner EW, Salzer U.

Blood Cells Mol Dis. 2017 May;64:15-22. doi: 10.1016/j.bcmd.2017.03.004. Epub 2017 Mar 7.

PMID:
28301811
16.

HyperCKemia instead of Hyperkalemia in Chorea-Acanthocytosis.

Danek A, Walker RH.

Cell Physiol Biochem. 2017;41(3):1267-1268. doi: 10.1159/000464390. Epub 2017 Mar 7. No abstract available.

17.

Neuroacanthocytosis: A case with unusual clinical features & novel response to treatment.

Wu CK, Santini VE, Dittus C, Saint Hilaire MH.

J Neurol Sci. 2017 Feb 15;373:346. doi: 10.1016/j.jns.2016.12.002. Epub 2016 Dec 7. No abstract available.

PMID:
27988032
18.

Response to "Neuroacanthocytosis: A case with unusual clinical features and novel response to treatment" by Wu et al.

Walker RH, Danek A.

J Neurol Sci. 2017 Feb 15;373:347. doi: 10.1016/j.jns.2016.12.004. Epub 2016 Dec 5. No abstract available.

PMID:
27955933
19.

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.

20.

A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.

Lupo F, Tibaldi E, Matte A, Sharma AK, Brunati AM, Alper SL, Zancanaro C, Benati D, Siciliano A, Bertoldi M, Zonta F, Storch A, Walker RH, Danek A, Bader B, Hermann A, De Franceschi L.

Blood. 2016 Dec 22;128(25):2976-2987. doi: 10.1182/blood-2016-07-727321. Epub 2016 Oct 14.

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