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Items: 1 to 20 of 59

1.

Une cause inhabituelle d’hyperCKémie.

Modrego PJ, Gazulla J, Cobo AM, Andoni Urtizberea J.

Med Sci (Paris). 2016 Nov;32 Hors série n°2:12-13. Epub 2016 Nov 21. French. No abstract available.

2.

Chorea-acanthocytosis: a case report.

Thapa L, Bhattarai S, Shrestha MP, Panth R, Gongal DN, Devkota UP.

Int Med Case Rep J. 2016 Feb 23;9:39-42. doi: 10.2147/IMCRJ.S95882. eCollection 2016.

3.

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.

4.

Successful Combination of Pallidal and Thalamic Stimulation for Intractable Involuntary Movements in Patients with Neuroacanthocytosis.

Nakano N, Miyauchi M, Nakanishi K, Saigoh K, Mitsui Y, Kato A.

World Neurosurg. 2015 Oct;84(4):1177.e1-7. doi: 10.1016/j.wneu.2015.06.052. Epub 2015 Jul 9.

PMID:
26165146
5.

Chorea-acanthocytosis presenting as dystonia.

Kobal J, Dobson-Stone C, Danek A, Fidler V, Zvan B, Zaletel M.

Acta Clin Croat. 2014 Mar;53(1):107-12.

PMID:
24974674
6.

Cerebellar atrophy in neuroacanthocytosis.

Sharma C, Nath K, Acharya M, Kumawat BL, Khandelwal D, Jain D.

BMJ Case Rep. 2014 Jun 6;2014. pii: bcr2014205232. doi: 10.1136/bcr-2014-205232. No abstract available.

7.

The first report of a Chinese family with McLeod syndrome.

Man BL, Yuen YP, Fu YP.

BMJ Case Rep. 2014 Jun 3;2014. pii: bcr2013202785. doi: 10.1136/bcr-2013-202785.

8.

Functional neuroimaging might enable the early diagnosis of neuroacanthocytosis.

Long X, Xiong N, Guo K, Zhu Q, Liu X, Lin Z, Wang T, Liang Z, Kong X, Liu C.

Can J Neurol Sci. 2014 May;41(3):402-4. No abstract available.

PMID:
24718830
9.

A novel XK gene mutation in a Taiwanese family with McLeod syndrome.

Chen PY, Lai SC, Yang CC, Lee MJ, Chiu YH, Yan SH, Lu CS, Yeh TH.

J Neurol Sci. 2014 May 15;340(1-2):221-4. doi: 10.1016/j.jns.2014.02.027. Epub 2014 Feb 27.

PMID:
24635891
10.

A case of McLeod phenotype of neuroacanthocytosis brain MR features and literature review.

Shah JR, Patkar DP, Kamat RN.

Neuroradiol J. 2013 Feb;26(1):21-6. Epub 2013 Mar 8. Review.

11.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H.

Neurobiol Aging. 2013 Oct;34(10):2442.e11-7. doi: 10.1016/j.neurobiolaging.2013.04.029. Epub 2013 May 30.

PMID:
23726790
12.

Mineral deposition on magnetic resonance imaging in chorea-acanthocytosis: a pathogenic link with pantothenate kinase-associated neurodegeneration?

Kaul B, Goyal V, Shukla G, Srivastava A, Garg A, Bader B, Danek A, Hayflick S, Behari M.

Neurol India. 2013 Mar-Apr;61(2):169-70. doi: 10.4103/0028-3886.111129. No abstract available.

13.

Successful deep brain stimulation surgery with intraoperative magnetic resonance imaging on a difficult neuroacanthocytosis case: case report.

Lim TT, Fernandez HH, Cooper S, Wilson KM, Machado AG.

Neurosurgery. 2013 Jul;73(1):E184-7; discussion E188. doi: 10.1227/01.neu.0000429852.45073.73.

PMID:
23615095
14.

Deep brain stimulation as a treatment for chorea-acanthocytosis.

Kefalopoulou Z, Zrinzo L, Aviles-Olmos I, Bhatia K, Jarman P, Jahanshahi M, Limousin P, Hariz M, Foltynie T.

J Neurol. 2013 Jan;260(1):303-5. doi: 10.1007/s00415-012-6714-0. Epub 2012 Oct 20. No abstract available.

PMID:
23086180
15.

Diagnosis of dystonic syndromes--a new eight-question approach.

Bertram KL, Williams DR.

Nat Rev Neurol. 2012 Mar 20;8(5):275-83. doi: 10.1038/nrneurol.2012.39. Review.

PMID:
22430107
16.

Brain, blood, and iron: perspectives on the roles of erythrocytes and iron in neurodegeneration.

Prohaska R, Sibon OC, Rudnicki DD, Danek A, Hayflick SJ, Verhaag EM, Vonk JJ, Margolis RL, Walker RH.

Neurobiol Dis. 2012 Jun;46(3):607-24. doi: 10.1016/j.nbd.2012.03.006. Epub 2012 Mar 9. Review.

17.

Chorea-acanthocytosis.

Sokolov E, Schneider SA, Bain PG.

Pract Neurol. 2012 Feb;12(1):40-3. doi: 10.1136/practneurol-2011-000045. No abstract available.

PMID:
22258171
18.

Chorea-acanthocytosis presenting as motor neuron disease.

Neutel D, Miltenberger-Miltenyi G, Silva I, de Carvalho M.

Muscle Nerve. 2012 Feb;45(2):293-5. doi: 10.1002/mus.22269. Erratum in: Muscle Nerve. 2012 Mar;45(3):456.

PMID:
22246890
19.

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.

20.

Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis.

Li P, Huang R, Song W, Ji J, Burgunder JM, Wang X, Zhong Q, Kaelin-Lang A, Wang W, Shang HF.

Neurol Sci. 2012 Apr;33(2):269-74. doi: 10.1007/s10072-011-0741-y. Epub 2011 Aug 24.

PMID:
21863267

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