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Items: 1 to 20 of 218

1.

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.

PMID:
28944547
2.

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.

3.

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
4.

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
5.

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.

6.

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.

7.

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
8.

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
9.

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.

10.

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.

11.

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.

12.

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
13.

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.

14.

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
15.

Is postoperative encephalopathy with choreoathetosis an acquired form of neuroacanthocytosis?

Popkirov S, Schlegel U, Skodda S.

Med Hypotheses. 2016 Apr;89:21-3. doi: 10.1016/j.mehy.2016.02.001. Epub 2016 Feb 6.

PMID:
26968902
16.

Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background.

Sakimoto H, Nakamura M, Nagata O, Yokoyama I, Sano A.

Biochem Biophys Res Commun. 2016 Mar 25;472(1):118-24. doi: 10.1016/j.bbrc.2016.02.077. Epub 2016 Feb 24.

PMID:
26921443
17.

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.

18.

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

Paucar M, Lindestad PÅ, Walker RH, Svenningsson P.

Neurology. 2015 Nov 10;85(19):e143-4. doi: 10.1212/WNL.0000000000002108. No abstract available.

19.

Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case.

Ortega MC, Skármeta NP, Diaz YJ.

Cranio. 2016 Sep;34(5):332-7. doi: 10.1179/2151090315Y.0000000027. Epub 2016 Apr 11. Review.

PMID:
26431448
20.

FDG PET brain scan demonstrated glucose hypometabolism of bilateral caudate nuclei and putamina in a patient with chorea-acanthocytosis.

Cui R, You H, Niu N, Li F.

Clin Nucl Med. 2015 Dec;40(12):979-80. doi: 10.1097/RLU.0000000000000968.

PMID:
26359566

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