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Items: 1 to 20 of 184

1.
Proceedings of the Tenth International Meeting on Neuroacanthocytosis Syndromes
Merc Masana, Manuel J. Rodrguez, Jordi Alberch
Tremor Other Hyperkinet Mov (N Y) 2021; 11: 19. Published online 2021 May 21. doi: 10.5334/tohm.622
PMCID:
PMC8139291
AbstractArticlePDF–549K
2.
Neuroacanthocytosis with unusual clinical features: A case report
Hui Zhu, Xue-min Feng, Teng Zhao, Jing-yao Liu
Medicine (Baltimore) 2019 Jan; 98(2): e14050. Published online 2019 Jan 11. doi: 10.1097/MD.0000000000014050
PMCID:
PMC6336636
AbstractArticlePDF–306K
3.
Demonstration of Cerebellar Atrophy in Neuroacanthocytosis of 2 Siblings
T. Katsube, T. Shimono, R. Ashikaga, M. Hosono, H. Kitagaki, T. Murakami
AJNR Am J Neuroradiol. 2009 Feb; 30(2): 386–388. doi: 10.3174/ajnr.A1282
PMCID:
PMC7051402
AbstractArticle
4.
A Case of McLeod Phenotype of Neuroacanthocytosis Brain MR Features and Literature Review
J.R. Shah, D.P. Patkar, R.N. Kamat
Neuroradiol J. 2013 Feb; 26(1): 21–26. Published online 2013 Feb 1. doi: 10.1177/197140091302600103
PMCID:
PMC5278858
AbstractArticlePDF–468K
5.
Chorea-Acanthocytosis Genotype in the Original Critchley Kentucky Neuroacanthocytosis Kindred
Antonio Velayos-Baeza, Elke Holinski-Feder, Birgit Neitzel, Benedikt Bader, Edmund M. R. Critchley, Anthony P. Monaco, Adrian Danek, Ruth H. Walker
Arch Neurol. Author manuscript; available in PMC 2015 Oct 23.
Published in final edited form as: Arch Neurol. 2011 Oct; 68(10): 1330–1333. doi: 10.1001/archneurol.2011.239
PMCID:
PMC4615612
AbstractArticlePDF–340K
6.
Management of Neuroacanthocytosis Syndromes
Ruth H. Walker
Tremor Other Hyperkinet Mov (N Y) 2015; 5: 346. Published online 2015 Oct 19. doi: 10.7916/D8W66K48
PMCID:
PMC4613733
AbstractArticlePDF–939K
7.
Neuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of Acanthocytes
Merel J. W. Adjobo-Hermans, Judith C. A. Cluitmans, Giel J. C. G. M. Bosman
Tremor Other Hyperkinet Mov (N Y) 2015; 5: 328. Published online 2015 Aug 25. doi: 10.7916/D8VH5N2M
PMCID:
PMC4548760
AbstractArticlePDF–714K
8.
Novel heterozygous VPS13A pathogenic variants in chorea-neuroacanthocytosis: a case report
Xi Chen, Piao Zhang, Lijuan Wang, Yuhu Zhang
BMC Neurol. 2023; 23: 350. Published online 2023 Oct 4. doi: 10.1186/s12883-023-03398-x
PMCID:
PMC10548615
AbstractArticlePDF–1.0M
9.
Proceedings of the Eleventh International Meeting on Neuroacanthocytosis Syndromes
Prof. Dr. rer. nat. Lars Kaestner
Tremor Other Hyperkinet Mov (N Y) 2023; 13: 41. Published online 2023 Nov 3. doi: 10.5334/tohm.826
PMCID:
PMC10624129
AbstractArticlePDF–597K
10.
“Neuroacanthocytosis” – Overdue for a Taxonomic Update
Ruth H. Walker, Adrian Danek
Tremor Other Hyperkinet Mov (N Y) 2021; 11: 1. Published online 2021 Jan 11. doi: 10.5334/tohm.583
PMCID:
PMC7805383
AbstractArticlePDF–421K
11.
Neuroacanthocytosis Syndromes: The Clinical Perspective
Ruth H. Walker, Kevin Peikert, Hans H. Jung, Andreas Hermann, Adrian Danek
Contact (Thousand Oaks) 2023 Jan-Dec; 6: 25152564231210339. Published online 2023 Dec 10. doi: 10.1177/25152564231210339
PMCID:
PMC10714877
AbstractArticlePDF–1.6M
12.
Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes
Ruth H. Walker
J Mov Disord. 2015 May; 8(2): 41–54. Published online 2015 May 31. doi: 10.14802/jmd.15009
PMCID:
PMC4460540
AbstractArticlePDF–840K
13.
Abnormal Red Cell Structure and Function in Neuroacanthocytosis
Judith C. A. Cluitmans, Carlo Tomelleri, Zuhal Yapici, Sip Dinkla, Petra Bovee-Geurts, Venkatachalam Chokkalingam, Lucia De Franceschi, Roland Brock, Giel J. G. C. M. Bosman
PLoS One. 2015; 10(5): e0125580. Published online 2015 May 1. doi: 10.1371/journal.pone.0125580
PMCID:
PMC4416783
AbstractArticlePDF–7.2M
14.
Neuroacanthocytosis in China: A Review of Published Reports
Jia Liu, Benedikt Bader, Adrian Danek
Tremor Other Hyperkinet Mov (N Y) 2014; 4: 248. Published online 2014 Oct 31. doi: 10.7916/D8Q23XDX
PMCID:
PMC4219110
AbstractArticlePDF–921K
15.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
Alessandro Vaisfeld, Giorgia Bruno, Martina Petracca, Anna Rita Bentivoglio, Serenella Servidei, Maria Gabriella Vita, Francesco Bove, Giulia Straccia, Clemente Dato, Giuseppe Di Iorio, Simone Sampaolo, Silvio Peluso, Anna De Rosa, Giuseppe De Michele, Melissa Barghigiani, Daniele Galatolo, Alessandra Tessa, Filippo Santorelli, Pietro Chiurazzi, Mariarosa Anna Beatrice Melone
Genes (Basel) 2021 Mar; 12(3): 344. Published online 2021 Feb 26. doi: 10.3390/genes12030344
PMCID:
PMC7996727
AbstractArticlePDF–2.3M
16.
Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis
Claudia Siegl, Patricia Hamminger, Herbert Jank, Uwe Ahting, Benedikt Bader, Adrian Danek, Allison Gregory, Monika Hartig, Susan Hayflick, Andreas Hermann, Holger Prokisch, Esther M. Sammler, Zuhal Yapici, Rainer Prohaska, Ulrich Salzer
PLoS One. 2013; 8(10): e76715. Published online 2013 Oct 3. doi: 10.1371/journal.pone.0076715
Correction in:
PLoS One. 2013; 8(10): 10.1371/annotation/9cae31b8-e1d9-4ba8-93e6-1f7276591746.
PMCID:
PMC3789665
AbstractArticlePDF–2.3M
17.
Acanthocyte Sedimentation Rate as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes: Experimental Evidence and Physical Justification
Alexis Darras, Kevin Peikert, Antonia Rabe, François Yaya, Greta Simionato, Thomas John, Anil Kumar Dasanna, Semen Buvalyy, Jürgen Geisel, Andreas Hermann, Dmitry A. Fedosov, Adrian Danek, Christian Wagner, Lars Kaestner
Cells. 2021 Apr; 10(4): 788. Published online 2021 Apr 2. doi: 10.3390/cells10040788
PMCID:
PMC8067274
AbstractArticlePDF–35M
18.
Computational Identification of Phospho-Tyrosine Sub-Networks Related to Acanthocyte Generation in Neuroacanthocytosis
Lucia De Franceschi, Giovanni Scardoni, Carlo Tomelleri, Adrian Danek, Ruth H. Walker, Hans H. Jung, Benedikt Bader, Sara Mazzucco, Maria Teresa Dotti, Angela Siciliano, Antonella Pantaleo, Carlo Laudanna
PLoS One. 2012; 7(2): e31015. Published online 2012 Feb 15. doi: 10.1371/journal.pone.0031015
PMCID:
PMC3280254
AbstractArticlePDF–908K
19.
Osmotic gradient ektacytometry – a novel diagnostic approach for neuroacanthocytosis syndromes
Carolina A. Hernández, Kevin Peikert, Min Qiao, Alexis Darras, Jonathan R. A. de Wilde, Jennifer Bos, Maya Leibowitz, Ian Galea, Christian Wagner, Minke A. E. Rab, Ruth H. Walker, Andreas Hermann, Eduard J. van Beers, Richard van Wijk, Lars Kaestner
Front Neurosci. 2024; 18: 1406969. Published online 2024 Jul 18. doi: 10.3389/fnins.2024.1406969
PMCID:
PMC11292800
AbstractArticlePDF–1.5M
20.
Neuroacanthocytosis Syndromes
Hans H Jung, Adrian Danek, Ruth H Walker
Orphanet J Rare Dis. 2011; 6: 68. Published online 2011 Oct 25. doi: 10.1186/1750-1172-6-68
PMCID:
PMC3212896
AbstractArticlePDF–616K

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