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Items: 1 to 20 of 163

1.
Episodic Ataxia Type 1: Natural History and Effect on Quality of Life
Tracey D. Graves, Robert C. Griggs, Brian N. Bundy, Joanna C. Jen, Robert W. Baloh, Michael G. Hanna, the CINCH Investigators
Cerebellum. 2023; 22(4): 578–586. Published online 2022 Jun 3. doi: 10.1007/s12311-021-01360-6
Correction in:
Cerebellum. 2023; 22(4): 587.
PMCID:
PMC10307716
AbstractArticlePDF–761K
2.
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel
Juan Zhao, Dimitri Petitjean, Georges A. Haddad, Zarah Batulan, Rikard Blunck
Int J Mol Sci. 2020 Oct; 21(20): 7602. Published online 2020 Oct 14. doi: 10.3390/ijms21207602
PMCID:
PMC7589002
AbstractArticlePDF–1.8M
3.
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
Haiming Yuan, Huihua Yuan, Qingming Wang, Wanhua Ye, Ruixia Yao, Wanfang Xu, Yanhui Liu
Mol Genet Genomic Med. 2020 Oct; 8(10): e1434. Published online 2020 Jul 23. doi: 10.1002/mgg3.1434
PMCID:
PMC7549609
AbstractArticlePDF–863K
4.
Episodic Ataxia Type 1 Mutations in the Human Kv1.1 Potassium Channel Alter hKvβ1-Induced N-Type Inactivation
Brooke Maylie, Erinne Bissonnette, Michael Virk, John P. Adelman, James G. Maylie
J Neurosci. 2002 Jun 15; 22(12): 4786–4793. doi: 10.1523/JNEUROSCI.22-12-04786.2002
PMCID:
PMC6757728
AbstractArticlePDF–219K
5.
Mechanism of Accelerated Current Decay Caused by an Episodic Ataxia Type-1-Associated Mutant in a Potassium Channel Pore
Christian J. Peters, Daniel Werry, Hira S. Gill, Eric A. Accili, David Fedida
J Neurosci. 2011 Nov 30; 31(48): 17449–17459. doi: 10.1523/JNEUROSCI.2940-11.2011
PMCID:
PMC6623802
AbstractArticlePDF–2.6M
6.
Episodic Ataxia Type 1 (K‐channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype
Kallol K. Set, Debabrata Ghosh, A.H.M. Huq, Aimee F. Luat
Mov Disord Clin Pract. 2017 Sep-Oct; 4(5): 784–786. Published online 2017 Jul 31. doi: 10.1002/mdc3.12518
PMCID:
PMC6174441
AbstractArticlePDF–86K
7.
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing
Elizabeth A. Ferrick-Kiddie, Joshua J. C. Rosenthal, Gregory D. Ayers, Ronald B. Emeson
Sci Rep. 2017; 7: 41095. Published online 2017 Feb 20. doi: 10.1038/srep41095
PMCID:
PMC5316942
AbstractArticlePDF–1.2M
8.
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels
Szu-Han Chen, Ssu-Ju Fu, Jing-Jia Huang, Chih-Yung Tang
Sci Rep. 2016; 6: 19378. Published online 2016 Jan 18. doi: 10.1038/srep19378
PMCID:
PMC4726062
AbstractArticlePDF–1.6M
9.
New insights into the pathogenesis and therapeutics of episodic ataxia type 1
Maria Cristina D’Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini
Front Cell Neurosci. 2015; 9: 317. Published online 2015 Aug 19. doi: 10.3389/fncel.2015.00317
PMCID:
PMC4541215
AbstractArticlePDF–509K
10.
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1
Pawel Tacik, Kimberly J. Guthrie, Audrey J. Strongosky, Daniel F. Broderick, Douglas L. Riegert-Johnson, Sha Tang, Dima El-Khechen, Alexander S. Parker, Owen A. Ross, Zbigniew K. Wszolek
Mayo Clin Proc. Author manuscript; available in PMC 2016 Mar 1.
Published in final edited form as: Mayo Clin Proc. 2015 Mar; 90(3): 366–371. Published online 2015 Feb 3. doi: 10.1016/j.mayocp.2015.01.001
PMCID:
PMC4354704
AbstractArticlePDF–209K
11.
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna
J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1107–1112. Published online 2013 Jan 24. doi: 10.1136/jnnp-2012-304131
PMCID:
PMC4332158
AbstractArticlePDF–2.4M
12.
Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation
Tracey D. Graves, Yoon-Hee Cha, Angelika F. Hahn, Richard Barohn, Mohammed K. Salajegheh, Robert C. Griggs, Brian N. Bundy, Joanna C. Jen, Robert W. Baloh, Michael G. Hanna
Brain. 2014 Apr; 137(4): 1009–1018. Published online 2014 Feb 26. doi: 10.1093/brain/awu012
PMCID:
PMC3959554
AbstractArticlePDF–343K
13.
Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1
Susan E. Tomlinson, S. Veronica Tan, Dimitri M. Kullmann, Robert C. Griggs, David Burke, Michael G. Hanna, Hugh Bostock
Brain. 2010 Dec; 133(12): 3530–3540. Published online 2010 Nov 23. doi: 10.1093/brain/awq318
PMCID:
PMC2995887
AbstractArticlePDF–327K
14.
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins(Video)
T.D. Graves, S. Rajakulendran, S.M. Zuberi, H.R. Morris, S. Schorge, M.G. Hanna, D.M. Kullmann
Neurology. 2010 Jul 27; 75(4): 367–372. doi: 10.1212/WNL.0b013e3181ea9ee3
PMCID:
PMC2918890
AbstractArticlePDF–934K
15.
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel.
M C D'Adamo, Z Liu, J P Adelman, J Maylie, M Pessia
EMBO J. 1998 Mar 2; 17(5): 1200–1207. doi: 10.1093/emboj/17.5.1200
PMCID:
PMC1170468
SummaryPDF–454K
16.
EAM highlights in FEMS 2023: from the Petri dish to planet Earth
Jörg Vogel, Victor de Lorenzo
Microlife. 2023; 4: uqad045. Published online 2023 Nov 3. doi: 10.1093/femsml/uqad045
PMCID:
PMC10723851
AbstractArticlePDF–853K
17.
Structure and function of the EA1 surface layer of Bacillus anthracis
Adrià Sogues, Antonella Fioravanti, Wim Jonckheere, Els Pardon, Jan Steyaert, Han Remaut
Nat Commun. 2023; 14: 7051. Published online 2023 Nov 3. doi: 10.1038/s41467-023-42826-x
PMCID:
PMC10624894
AbstractArticlePDF–5.5M
18.
An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1
Ilenio Servettini, Giuseppe Talani, Alfredo Megaro, Maria Dolores Setzu, Francesca Biggio, Michelle Briffa, Luca Guglielmi, Nicoletta Savalli, Francesca Binda, Francis Delicata, Gilles Bru–Mercier, Neville Vassallo, Vittorio Maglione, Ruben J. Cauchi, Alba Di Pardo, Maria Collu, Paola Imbrici, Luigi Catacuzzeno, Maria Cristina D’Adamo, Riccardo Olcese, Mauro Pessia
Proc Natl Acad Sci U S A. 2023 Aug 1; 120(31): e2207978120. Published online 2023 Jul 24. doi: 10.1073/pnas.2207978120
PMCID:
PMC10401004
AbstractArticlePDF–1.6M
19.
Structure and Migration Mechanisms of Small Vacancy Clusters in Cu: A Combined EAM and DFT Study
Vasileios Fotopoulos, David Mora-Fonz, Manuel Kleinbichler, Rishi Bodlos, Ernst Kozeschnik, Lorenz Romaner, Alexander L. Shluger
Nanomaterials (Basel) 2023 May; 13(9): 1464. Published online 2023 Apr 25. doi: 10.3390/nano13091464
PMCID:
PMC10180345
AbstractArticlePDF–16M
20.
Investigation of Performance of Anion Exchange Membrane (AEM) Electrolysis with Different Operating Conditions
Adam Mohd Izhan Noor Azam, Thuushren Ragunathan, Nurul Noramelya Zulkefli, Mohd Shahbudin Masdar, Edy Herianto Majlan, Rozan Mohamad Yunus, Noor Shahirah Shamsul, Teuku Husaini, Siti Nur Amira Shaffee
Polymers (Basel) 2023 Mar; 15(5): 1301. Published online 2023 Mar 4. doi: 10.3390/polym15051301
PMCID:
PMC10006946
AbstractArticlePDF–4.5M

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