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Items: 16

Select item 58013251.

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

Christopher L. Groth, Brian D. Berman

Tremor Other Hyperkinet Mov (N Y) 2018; 8: 534. Published online 2018 Jan 30. doi: 10.7916/D80S0ZJQ

PMCID:: PMC5801325

Abstract Article PDF–796K

Select item 44552422.

Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27

Filippo Tempia, Eriola Hoxha, Giulia Negro, Musaad A. Alshammari, Tahani K. Alshammari, Neli Panova-Elektronova, Fernanda Laezza

Front Cell Neurosci. 2015; 9: 205. Published online 2015 Jun 4. doi: 10.3389/fncel.2015.00205

PMCID:: PMC4455242

Abstract Article PDF–1.3M

Select item 101238663.

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

M. Paucar, J. Lundin, T. Alshammari, Å. Bergendal, M. Lindefeldt, M. Alshammari, G. Solders, J. Di Re, I. Savitcheva, T. Granberg, F. Laezza, E. Iwarsson, P. Svenningsson

J Intern Med. Author manuscript; available in PMC 2023 Apr 24.

Published in final edited form as: J Intern Med. 2020 Jul; 288(1): 103–115. Published online 2020 Mar 19. doi: 10.1111/joim.13052

PMCID:: PMC10123866

Abstract Article PDF–2.0M

Select item 44128954.

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance

Marie K. Bosch, Yarimar Carrasquillo, Joseph L. Ransdell, Ajay Kanakamedala, David M. Ornitz, Jeanne M. Nerbonne

J Neurosci. 2015 Apr 29; 35(17): 6752–6769. doi: 10.1523/JNEUROSCI.2663-14.2015

PMCID:: PMC4412895

Abstract Article PDF–4.5M

Select item 37365845.

FGF14 regulates presynaptic Ca²⁺ channels and synaptic transmission

Haidun Yan, Juan L. Pablo, Geoffrey S. Pitt

Cell Rep. Author manuscript; available in PMC 2013 Aug 7.

Published in final edited form as: Cell Rep. 2013 Jul 11; 4(1): 66–75. Published online 2013 Jul 3. doi: 10.1016/j.celrep.2013.06.012

PMCID:: PMC3736584

Abstract Article PDF–2.9M

Select item 22679156.

Impaired spatial learning and defective theta burst induced LTP in mice lacking fibroblast growth factor 14

David F. Wozniak, Maolei Xiao, Lin Xu, Kelvin A. Yamada, David M. Ornitz

Neurobiol Dis. Author manuscript; available in PMC 2008 Mar 16.

Published in final edited form as: Neurobiol Dis. 2007 Apr; 26(1): 14–26. Published online 2007 Jan 19. doi: 10.1016/j.nbd.2006.11.014

PMCID:: PMC2267915

Abstract Article PDF–1.1M

Select item 100649127.

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 99954948.

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

Fabiola Ceroni, Daniel Osborne, Samuel Clokie, Dorine A. Bax, Emma J. Cassidy, Matt J. Dunn, Christopher M. Harris, Jay E. Self, Nicola K. Ragge

Eur J Hum Genet. 2023 Mar; 31(3): 353–359. Published online 2022 Oct 7. doi: 10.1038/s41431-022-01197-5

PMCID:: PMC9995494

Abstract Article PDF–1.2M

Select item 71986389.

A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study

Michael Strupp, Stephan Maul, Bettina Konte, Annette M. Hartmann, Ina Giegling, Sophia Wollenteit, Katharina Feil, Dan Rujescu

Cerebellum. 2020; 19(3): 348–357. Published online 2020 Mar 10. doi: 10.1007/s12311-020-01113-x

PMCID:: PMC7198638

Abstract Article PDF–685K

Select item 312354810.

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 265284911.

FGF14 Regulates the Intrinsic Excitability of Cerebellar Purkinje Neurons

Vikram G. Shakkottai, Maolei Xiao, Lin Xu, Michael Wong, Jeanne M. Nerbonne, David M. Ornitz, Kelvin A. Yamada

Neurobiol Dis. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: Neurobiol Dis. 2009 Jan; 33(1): 81–88. Published online 2008 Oct 1. doi: 10.1016/j.nbd.2008.09.019

PMCID:: PMC2652849

Abstract Article PDF–1.9M

Select item 979584512.

Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia

Moritz A. Loeffler, Matthis Synofzik, Idil Cebi, Philipp Klocke, Mohammad Hormozi, Thomas Gasser, Alireza Gharabaghi, Daniel Weiss

Front Neurol. 2022; 13: 1048530. Published online 2022 Dec 14. doi: 10.3389/fneur.2022.1048530

PMCID:: PMC9795845

Abstract Article PDF–2.7M

Select item 963812813.

Episodic ataxias in children and adolescents: Clinical findings and suggested diagnostic criteria

Filipp Maximilian Filippopulos, Lutz Schnabel, Konstanze Dunker, Ralf Strobl, Doreen Huppert

Front Neurol. 2022; 13: 1016856. Published online 2022 Oct 24. doi: 10.3389/fneur.2022.1016856

PMCID:: PMC9638128

Abstract Article PDF–867K

Select item 685837314.

High-throughput screening against protein:protein interaction interfaces reveals anti-cancer therapeutics as potent modulators of the voltage-gated Na⁺ channel complex

Paul A. Wadsworth, Oluwarotimi Folorunso, Nghi Nguyen, Aditya K. Singh, Daniela D’Amico, Reid T. Powell, David Brunell, John Allen, Clifford Stephan, Fernanda Laezza

Sci Rep. 2019; 9: 16890. Published online 2019 Nov 15. doi: 10.1038/s41598-019-53110-8