PMC Articles for MedGen (Select 344297) - PMC

Links from MedGen

Items: 1 to 20 of 41

<< First< Prev

Page of 3

Select item 12870811.

Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

Alexandra Herman-Bert, Giovanni Stevanin, Jean-Claude Netter, Olivier Rascol, David Brassat, Patrick Calvas, Agnès Camuzat, Qiu-ping Yuan, Martin Schalling, Alexandra Dürr, Alexis Brice

Am J Hum Genet. 2000 Jul; 67(1): 229–235. Published online 2000 May 11. doi: 10.1086/302958

PMCID:: PMC1287081

Abstract Article PDF–276K

Select item 102944602.

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene

Shao Li, Dandan Shang, Yanjiao Du, Yan Li, Ruihua Liu

BMC Neurol. 2023; 23: 246. Published online 2023 Jun 26. doi: 10.1186/s12883-023-03304-5

PMCID:: PMC10294460

Abstract Article PDF–976K

Select item 41815613.

KCNC3^R420H, a K⁺ Channel Mutation Causative in Spinocerebellar Ataxia 13 Displays Aberrant Intracellular Trafficking

Carolina Gallego-Iradi, Justin S. Bickford, Swati Khare, Alexis Hall, Jerelyn A. Nick, Donya Salmasinia, Kolja Wawrowsky, Serguei Bannykh, Duong P. Huynh, Diego E. Rincon-Limas, Stefan M. Pulst, Harry S. Nick, Pedro Fernandez-Funez, Michael F. Waters

Neurobiol Dis. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Neurobiol Dis. 2014 Nov; 71: 270–279. Published online 2014 Aug 22. doi: 10.1016/j.nbd.2014.08.020

PMCID:: PMC4181561

Abstract Article PDF–1.2M

Select item 42987754.

Spectrum of Sleep Disorders in a Patient with Spinocerebellar Ataxia 13

Mukesh Kapoor, Glen Greenough

J Clin Sleep Med. 2015 Feb 15; 11(2): 177–179. Published online 2015 Feb 15. doi: 10.5664/jcsm.4468

PMCID:: PMC4298775

Abstract Article PDF–263K

Select item 94984005.

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family

Hammad Yousaf, Ambrin Fatima, Zafar Ali, Shahid M. Baig, Mathias Toft, Zafar Iqbal

Genes (Basel) 2022 Sep; 13(9): 1667. Published online 2022 Sep 17. doi: 10.3390/genes13091667

PMCID:: PMC9498400

Abstract Article PDF–452K

Select item 30661946.

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

Karla P. Figueroa, Michael F. Waters, Vartan Garibyan, Thomas D. Bird, Christopher M. Gomez, Laura P. W. Ranum, Natali A. Minassian, Diane M. Papazian, Stefan M. Pulst

PLoS One. 2011; 6(3): e17811. Published online 2011 Mar 29. doi: 10.1371/journal.pone.0017811

PMCID:: PMC3066194

Abstract Article PDF–977K

Select item 37920417.

Mutation in the Kv3.3 Voltage-Gated Potassium Channel Causing Spinocerebellar Ataxia 13 Disrupts Sound-Localization Mechanisms

John C. Middlebrooks, Harry S. Nick, S. H. Subramony, Joel Advincula, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters

PLoS One. 2013; 8(10): e76749. Published online 2013 Oct 7. doi: 10.1371/journal.pone.0076749

PMCID:: PMC3792041

Abstract Article PDF–596K

Select item 88374168.

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

David Pomarino, Johanna Ronja Thren, Anneke Thren, Kevin Rostasy, Jan Schoenfeldt

Glob Med Genet. 2022 Mar; 9(1): 51–53. Published online 2021 Oct 19. doi: 10.1055/s-0041-1736483

PMCID:: PMC8837416

Abstract Article PDF–146K

Select item 31018759.

Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish

Fadi A. Issa, Christopher Mazzochi, Allan F. Mock, Diane M. Papazian

J Neurosci. 2011 May 4; 31(18): 6831–6841. doi: 10.1523/JNEUROSCI.6572-10.2011

PMCID:: PMC3101875

Abstract Article PDF–2.8M

Select item 382426110.

Comprehensive Phenotype of the p.Arg420his Allelic Form of Spinocerebellar Ataxia Type 13

SH Subramony, Joel Advincula, Susan Perlman, Raymond L. Rosales, Lillian V. Lee, Tetsuo Ashizawa, Michael F. Waters

Cerebellum. 2013; 12(6): 932–936. Published online 2013 Aug 3. doi: 10.1007/s12311-013-0507-6

PMCID:: PMC3824261

Abstract Article PDF–315K

Select item 390336211.

Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells

Tomohiko Irie, Yasunori Matsuzaki, Yuko Sekino, Hirokazu Hirai

J Physiol. 2014 Jan 1; 592(Pt 1): 229–247. Published online 2013 Nov 11. doi: 10.1113/jphysiol.2013.264309

PMCID:: PMC3903362

Abstract Article PDF–1.8M

Select item 541495412.

A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

Swati Khare, Jerelyn A. Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P. W. Ranum, Lisa Smithson, Todd E. Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E. Rincon-Limas, Jada Lewis, Leonard K. Kaczmarek, Pedro Fernandez-Funez, Harry S. Nick, Michael F. Waters

PLoS One. 2017; 12(5): e0173565. Published online 2017 May 3. doi: 10.1371/journal.pone.0173565

PMCID:: PMC5414954

Abstract Article PDF–7.0M

Select item 348487313.

Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

Fadi A. Issa, Allan F. Mock, Alvaro Sagasti, Diane M. Papazian

Dis Model Mech. 2012 Nov; 5(6): 921–929. Published online 2012 Jun 26. doi: 10.1242/dmm.010157

PMCID:: PMC3484873

Abstract Article

Select item 341348614.

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

Natali A Minassian, Meng-Chin A Lin, Diane M Papazian

J Physiol. 2012 Apr; 590(Pt 7): 1599–1614. Published online 2012 Jan 30. doi: 10.1113/jphysiol.2012.228205

PMCID:: PMC3413486

Abstract Article PDF–2.4M

Select item 738690515.

Infant and adult SCA13 mutations differentially affect Purkinje cell excitability, maturation, and viability in vivo

Jui-Yi Hsieh, Brittany N Ulrich, Fadi A Issa, Meng-chin A Lin, Brandon Brown, Diane M Papazian

eLife. 2020; 9: e57358. Published online 2020 Jul 9. doi: 10.7554/eLife.57358

PMCID:: PMC7386905

Abstract Article PDF–4.3M

Select item 829977516.

C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity

Swati Khare, Kira Galeano, Yalan Zhang, Jerelyn A. Nick, Harry S. Nick, S. H. Subramony, Jacinda Sampson, Leonard K. Kaczmarek, Michael F. Waters

Cerebellum. Author manuscript; available in PMC 2021 Jul 23.

Published in final edited form as: Cerebellum. 2018 Oct; 17(5): 692–697. doi: 10.1007/s12311-018-0950-5

PMCID:: PMC8299775

Abstract Article PDF–664K

Select item 863078017.

Suppression of Kv3.3 channels by antisense oligonucleotides reverses biochemical effects and motor impairment in spinocerebellar ataxia type 13 mice

Yalan Zhang, Imran H. Quraishi, Heather McClure, Luis A. Williams, YungChih Cheng, Siddharth Kale, Graham T. Dempsey, Sudhir Agrawal, David J. Gerber, Owen B. McManus, Leonard K. Kaczmarek

FASEB J. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: FASEB J. 2021 Dec; 35(12): e22053. doi: 10.1096/fj.202101356R

PMCID:: PMC8630780

Abstract Article PDF–1.3M

Select item 312354818.

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Nathaniel Robb Whaley, Shinsuke Fujioka, Zbigniew K Wszolek

Orphanet J Rare Dis. 2011; 6: 33. Published online 2011 May 28. doi: 10.1186/1750-1172-6-33

PMCID:: PMC3123548

Abstract Article PDF–1.2M

Select item 667043219.

Purkinje-Cell-Restricted Restoration of Kv3.3 Function Restores Complex Spikes and Rescues Motor Coordination in Kcnc3 Mutants

Edward C. Hurlock, Anne McMahon, Rolf H. Joho

J Neurosci. 2008 Apr 30; 28(18): 4640–4648. doi: 10.1523/JNEUROSCI.5486-07.2008

PMCID:: PMC6670432

Abstract Article PDF–516K

Select item 797948520.

Presynaptic Kv3 channels are required for fast and slow endocytosis of synaptic vesicles

Xin-Sheng Wu, Shobana Subramanian, Yalan Zhang, Bo Shi, Jessica Xia, Tiansheng Li, Xiaoli Guo, Lynda El-Hassar, Klara Szigeti-Buck, Jorge Henao-Mejia, Richard A. Flavell, Tamas L. Horvath, Elizabeth A. Jonas, Leonard K. Kaczmarek, Ling-Gang Wu

Neuron. Author manuscript; available in PMC 2022 Mar 17.

Published in final edited form as: Neuron. 2021 Mar 17; 109(6): 938–946.e5. Published online 2021 Jan 27. doi: 10.1016/j.neuron.2021.01.006

PMCID:: PMC7979485

Abstract Article PDF–1.5M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 41

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity