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Items: 1 to 20 of 225

1.

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
2.

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.

3.

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.

4.

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.

5.

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.

6.

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
7.

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
8.

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
9.

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
10.

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.

11.

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
12.

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.

13.

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
14.

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
15.

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.

16.

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.

17.

Abnormal eye movements in three types of chorea.

Attoni T, Beato R, Pinto S, Cardoso F.

Arq Neuropsiquiatr. 2016 Sep;74(9):761-766. doi: 10.1590/0004-282X20160109. Review.

18.

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
19.

Yeast Vps13 promotes mitochondrial function and is localized at membrane contact sites.

Park JS, Thorsness MK, Policastro R, McGoldrick LL, Hollingsworth NM, Thorsness PE, Neiman AM.

Mol Biol Cell. 2016 Aug 1;27(15):2435-49. doi: 10.1091/mbc.E16-02-0112. Epub 2016 Jun 8.

20.

Deep brain stimulation for the treatment of hyperkinetic movement disorders.

di Biase L, Munhoz RP.

Expert Rev Neurother. 2016 Sep;16(9):1067-78. doi: 10.1080/14737175.2016.1196139. Epub 2016 Jun 10. Review.

PMID:
27254274

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