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Items: 1 to 20 of 242

1.

Neuroacanthocytosis with unusual clinical features: A case report.

Zhu H, Feng XM, Zhao T, Liu JY.

Medicine (Baltimore). 2019 Jan;98(2):e14050. doi: 10.1097/MD.0000000000014050.

2.

Chorea-Acanthocytosis and the Huntington Disease Allele in an Irish Family.

Murphy OC, O'Toole O, Hand CK, Ryan AM.

Tremor Other Hyperkinet Mov (N Y). 2018 Oct 26;8:604. doi: 10.7916/D8R22J6M. eCollection 2018. No abstract available.

3.

O'Sullivan-McLeod syndrome: Unmasking a rare atypical motor neuron disease.

Pinto WBVR, Nunes PP, Lima E Teixeira I, Assis ACD, Naylor FGM, Chieia MAT, Souza PVS, A S B Oliveira.

Rev Neurol (Paris). 2019 Jan - Feb;175(1-2):81-86. doi: 10.1016/j.neurol.2018.04.009. Epub 2018 Nov 5.

PMID:
30409480
4.

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.

5.

Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.

Glaß H, Pal A, Reinhardt P, Sterneckert J, Wegner F, Storch A, Hermann A.

Mol Cell Neurosci. 2018 Oct;92:137-148. doi: 10.1016/j.mcn.2018.08.002. Epub 2018 Aug 3.

PMID:
30081151
6.

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
7.

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
8.

Subcortical neurodegeneration in chorea: Similarities and differences between chorea-acanthocytosis and Huntington's disease.

Liu J, Heinsen H, Grinberg LT, Alho E, Amaro E Jr, Pasqualucci CA, Rüb U, den Dunnen W, Arzberger T, Schmitz C, Kiessling M, Bader B, Danek A.

Parkinsonism Relat Disord. 2018 Apr;49:54-59. doi: 10.1016/j.parkreldis.2018.01.009. Epub 2018 Jan 10.

PMID:
29402698
9.

Phenomenology and disease progression of chorea-acanthocytosis patients in Spain.

Estévez-Fraga C, López-Sendón Moreno JL, Martínez-Castrillo JC; Spanish Collaborative Neuroacanthocytosis Group.

Parkinsonism Relat Disord. 2018 Apr;49:17-21. doi: 10.1016/j.parkreldis.2017.10.016. Epub 2017 Dec 20. No abstract available.

PMID:
29317187
10.

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

Peikert K, Danek A, Hermann A.

Eur J Med Genet. 2018 Nov;61(11):699-705. doi: 10.1016/j.ejmg.2017.12.007. Epub 2017 Dec 16. Review.

PMID:
29253590
11.

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
12.

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.

13.

Value of 18F-FDG PET/CT in the diagnosis of chorea-acanthocytosis.

López-Mora DA, Camacho V, Fernandez A, Fuentes F, Pérez-Pérez J, Carrio I.

Rev Esp Med Nucl Imagen Mol. 2018 Sep - Oct;37(5):328-329. doi: 10.1016/j.remn.2017.11.002. Epub 2017 Dec 6. English, Spanish. No abstract available.

PMID:
29208484
14.

Neurons, Erythrocytes and Beyond -The Diverse Functions of Chorein.

Lang F, Pelzl L, Schöls L, Hermann A, Föller M, Schäffer TE, Stournaras C.

Neurosignals. 2017;25(1):117-126. doi: 10.1159/000485457. Epub 2017 Nov 28. Review.

15.

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.

16.

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.

17.

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.

18.

Lithium Sensitive ORAI1 Expression, Store Operated Ca2+ Entry and Suicidal Death of Neurons in Chorea-Acanthocytosis.

Pelzl L, Hauser S, Elsir B, Sukkar B, Sahu I, Singh Y, Höflinger P, Bissinger R, Jemaà M, Stournaras C, Schöls L, Lang F.

Sci Rep. 2017 Jul 25;7(1):6457. doi: 10.1038/s41598-017-06451-1.

19.

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
20.

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

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