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Select item 63152971.

HLA-A*68:02-restricted Gag-specific CTL responses can drive selection pressure on HIV but are subdominant and ineffective

Henrik N. Kløverpris, Anette Stryhn, Mikkel Harndahl, Jonathan M. Carlson, Alasdair J Leslie, Fabian Chen, Lynn Riddell, Joseph Mulenga, Bruce D. Walker, Thumbi Ndung’u, Søren Buus, Philip Goulder

AIDS. Author manuscript; available in PMC 2019 Jan 3.

Published in final edited form as: AIDS. 2013 Jul 17; 27(11): 1717–1723. doi: 10.1097/QAD.0b013e32836146cd

PMCID:: PMC6315297

Abstract Article PDF–869K

Select item 41955762.

Different Expression Patterns of Genes from the Exo-Xis Region of Bacteriophage λ and Shiga Toxin-Converting Bacteriophage Ф24_B following Infection or Prophage Induction in Escherichia coli

Sylwia Bloch, Bożena Nejman-Faleńczyk, Aleksandra Dydecka, Joanna M. Łoś, Agnieszka Felczykowska, Alicja Węgrzyn, Grzegorz Węgrzyn

PLoS One. 2014; 9(10): e108233. Published online 2014 Oct 13. doi: 10.1371/journal.pone.0108233

PMCID:: PMC4195576

Abstract Article PDF–1.9M

Select item 86146903.

Molecular Modeling the Proteins from the exo-xis Region of Lambda and Shigatoxigenic Bacteriophages

Logan W. Donaldson

Antibiotics (Basel) 2021 Nov; 10(11): 1282. Published online 2021 Oct 21. doi: 10.3390/antibiotics10111282

PMCID:: PMC8614690

Abstract Article PDF–3.3M

Select item 72775964.

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Neven Maksemous, Heidi G. Sutherland, Robert A. Smith, Larisa M. Haupt, Lyn R. Griffiths

Biomedicines. 2020 May; 8(5): 134. Published online 2020 May 25. doi: 10.3390/biomedicines8050134

PMCID:: PMC7277596

Abstract Article PDF–442K

Select item 70933395.

The ea22 gene of lambdoid phages: preserved prolysogenic function despite of high sequence diversity

Aleksandra Dydecka, Sylwia Bloch, Agnieszka Necel, Gracja Topka, Alicja Węgrzyn, Jinge Tong, Logan W. Donaldson, Grzegorz Węgrzyn, Bożena Nejman-Faleńczyk

Virus Genes. 2020; 56(2): 266–277. Published online 2020 Jan 22. doi: 10.1007/s11262-020-01734-8

PMCID:: PMC7093339

Abstract Article PDF–1.3M

Select item 33884526.

The Hypouricemic Effect of Balanophora laxiflora Extracts and Derived Phytochemicals in Hyperuricemic Mice

Shang-Tse Ho, Yu-Tang Tung, Chi-Chang Huang, Chao-Lin Kuo, Chi-Chen Lin, Suh-Ching Yang, Jyh-Horng Wu

Evid Based Complement Alternat Med. 2012; 2012: 910152. Published online 2012 Jun 19. doi: 10.1155/2012/910152

PMCID:: PMC3388452

Abstract Article PDF–786K

Select item 109300237.

一个发作性共济失调2型家系的临床表现及CACNA1A基因突变

徐迎晖, 王智沁, 孙启英, 周琳, 许宏伟, 胡雅岑

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jun 28; 47(6): 801–808. Chinese. doi: 10.11817/j.issn.1672-7347.2022.210650

PMCID:: PMC10930023

Abstract Article PDF–1.0M

Select item 100649128.

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches

Anhar Hassan

Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747

PMCID:: PMC10064912

Abstract Article PDF–842K

Select item 96323609.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia

Emilie Neerup Nielsen, Birna Ásbjörnsdóttir, Lisbeth Birk Møller, Jørgen Erik Nielsen, Suzanne Granhøj Lindquist

Cold Spring Harb Mol Case Stud. 2022 Oct; 8(6): a006236. doi: 10.1101/mcs.a006236

PMCID:: PMC9632360

Abstract Article PDF–432K

Select item 754960910.

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

Abstract Article PDF–863K

Select item 721577711.

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches

Maria Cristina D’Adamo, Antonella Liantonio, Jean-Francois Rolland, Mauro Pessia, Paola Imbrici

Int J Mol Sci. 2020 Apr; 21(8): 2935. Published online 2020 Apr 22. doi: 10.3390/ijms21082935

PMCID:: PMC7215777

Abstract Article PDF–1.2M

Select item 721540812.

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

Kelsey Paulhus, Lauren Ammerman, Edward Glasscock

Int J Mol Sci. 2020 Apr; 21(8): 2802. Published online 2020 Apr 17. doi: 10.3390/ijms21082802

PMCID:: PMC7215408

Abstract Article PDF–1.3M

Select item 679257913.

Episodic Ataxia Mutations in Kv1.1 Alter Potassium Channel Function by Dominant Negative Effects or Haploinsufficiency

Patricia Zerr, John P. Adelman, James Maylie

J Neurosci. 1998 Apr 15; 18(8): 2842–2848. doi: 10.1523/JNEUROSCI.18-08-02842.1998

PMCID:: PMC6792579

Abstract Article PDF–178K

Select item 491121714.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Catherine A. Brownstein, Alan H. Beggs, Lance Rodan, Jiahai Shi, Meghan C. Towne, Renee Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan Picker, Wen-Hann Tan, Pankaj B. Agrawal

Neurogenetics. Author manuscript; available in PMC 2016 Jun 16.

Published in final edited form as: Neurogenetics. 2016 Jan; 17(1): 11–16. Published online 2015 Sep 22. doi: 10.1007/s10048-015-0460-2

PMCID:: PMC4911217

Abstract Article PDF–362K

Select item 481101815.

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A

Maria da Conceição Pereira, Sara Morais, Jorge Sequeiros, Isabel Alonso

ASN Neuro. 2016 Mar-Apr; 8(2): 1759091416637025. Published online 2016 Mar 18. doi: 10.1177/1759091416637025

PMCID:: PMC4811018

Abstract Article PDF–825K

Select item 465534516.

The clinical and genetic heterogeneity of paroxysmal dyskinesias

Alice R. Gardiner, Fatima Jaffer, Russell C. Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann, Tom Warner, Paul Jarman, Mike Hanna, Manju A. Kurian, Kailash P. Bhatia, Henry Houlden

Brain. 2015 Dec; 138(12): 3567–3580. Published online 2015 Nov 18. doi: 10.1093/brain/awv310

PMCID:: PMC4655345

Abstract Article PDF–1016K

Select item 395390117.

A novel locus for episodic ataxia:UBR4 the likely candidate

Judith Conroy, Paul McGettigan, Raymond Murphy, David Webb, Sinéad M Murphy, Blathnaid McCoy, Christine Albertyn, Dara McCreary, Cara McDonagh, Orla Walsh, SallyAnn Lynch, Sean Ennis

Eur J Hum Genet. 2014 Apr; 22(4): 505–510. Published online 2013 Aug 28. doi: 10.1038/ejhg.2013.173

PMCID:: PMC3953901

Abstract Article PDF–360K

Select item 357540718.

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Yafang Hu, Haishan Jiang, Qun Wang, Zuoshan Xie, Suyue Pan

PLoS One. 2013; 8(2): e56362. Published online 2013 Feb 18. doi: 10.1371/journal.pone.0056362

PMCID:: PMC3575407

Abstract Article PDF–313K

Select item 351193019.

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

Alice R. Gardiner, Kailash P. Bhatia, Maria Stamelou, Russell C. Dale, Manju A. Kurian, Susanne A. Schneider, G.M. Wali, Tim Counihan, Anthony H. Schapira, Sian D. Spacey, Enza-Maria Valente, Laura Silveira-Moriyama, Hélio A.G. Teive, Salmo Raskin, Josemir W. Sander, Andrew Lees, Tom Warner, Dimitri M. Kullmann, Nicholas W. Wood, Michael Hanna, Henry Houlden

Neurology. 2012 Nov 20; 79(21): 2115–2121. doi: 10.1212/WNL.0b013e3182752c5a