Cargando…

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2

Ion channel dysfunction causes a range of neurological disorders by altering transmembrane ion fluxes, neuronal or muscle excitability, and neurotransmitter release. Genetic neuronal channelopathies affecting peripheral axons provide a unique opportunity to examine the impact of dysfunction of a sin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tomlinson, Susan E., Tan, S. Veronica, Burke, David, Labrum, Robyn W., Haworth, Andrea, Gibbons, Vaneesha S., Sweeney, Mary G., Griggs, Robert C., Kullmann, Dimitri M., Bostock, Hugh, Hanna, Michael G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795516/ https://www.ncbi.nlm.nih.gov/pubmed/26912519 http://dx.doi.org/10.1093/brain/awv380

Ejemplares similares

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
por: Tomlinson, Susan Elizabeth, et al.
Publicado: (2013)

Basket to Purkinje Cell Inhibitory Ephaptic Coupling Is Abolished in Episodic Ataxia Type 1
por: Martin, Henry G. S., et al.
Publicado: (2023)

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
por: Brown, Alexander F., et al.
Publicado: (2021)

Dysfunction of the Ca(V)2.1 calcium channel in cerebellar ataxias
por: Rajakulendran, Sanjeev, et al.
Publicado: (2010)

Episodic Ataxia Type 1: Natural History and Effect on Quality of Life
por: Graves, Tracey D., et al.
Publicado: (2022)

Correction to: Episodic Ataxia Type 1: Natural History and Effect on Quality of Life
por: Graves, Tracey D., et al.
Publicado: (2022)

Action potential broadening in a presynaptic channelopathy
por: Begum, Rahima, et al.
Publicado: (2016)

Long-term potentiation in hippocampal oriens interneurons: postsynaptic induction, presynaptic expression and evaluation of candidate retrograde factors
por: Nicholson, Elizabeth, et al.
Publicado: (2014)

MicroRNAs in the axon and presynaptic nerve terminal
por: Kaplan, Barry B., et al.
Publicado: (2013)

Editorial: Control of Presynaptic Function by Axonal Dynamics
por: Trigo, Federico F., et al.
Publicado: (2019)

Case report: Episodic ataxia without ataxia?
por: Gaudio, Andrea, et al.
Publicado: (2023)

Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia
por: Maksemous, Neven, et al.
Publicado: (2020)

FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9
por: Piarroux, Julie, et al.
Publicado: (2020)

Episodic Ataxias: Faux or Real?
por: Giunti, Paola, et al.
Publicado: (2020)

Loss of Saltation and Presynaptic Action Potential Failure in Demyelinated Axons
por: Hamada, Mustafa S., et al.
Publicado: (2017)

Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
por: Koh, S. H., et al.
Publicado: (2001)

Episodic Ataxias: Clinical and Genetic Features
por: Choi, Kwang-Dong, et al.
Publicado: (2016)

Episodic ataxia in CASPR2 autoimmunity
por: López Chiriboga, A. Sebastian, et al.
Publicado: (2018)

Ionotropic receptors at hippocampal mossy fibers: roles in axonal excitability, synaptic transmission, and plasticity
por: Ruiz, Arnaud J., et al.
Publicado: (2013)

MFF-dependent mitochondrial fission regulates presynaptic release and axon branching by limiting axonal mitochondria size
por: Lewis, Tommy L., et al.
Publicado: (2018)

Neuronal Autophagy Regulates Presynaptic Neurotransmission by Controlling the Axonal Endoplasmic Reticulum
por: Kuijpers, Marijn, et al.
Publicado: (2022)

α-Synuclein at the Presynaptic Axon Terminal as a Double-Edged Sword
por: Tan, Li Yang, et al.
Publicado: (2022)

Neuronal Autophagy Regulates Presynaptic Neurotransmission by Controlling the Axonal Endoplasmic Reticulum
por: Kuijpers, Marijn, et al.
Publicado: (2021)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
por: Nethisinghe, Suran, et al.
Publicado: (2018)

Axonal inclusions in spinocerebellar ataxia type 3
por: Seidel, Kay, et al.
Publicado: (2010)

Genetic Variants Associated with Episodic Ataxia in Korea
por: Choi, Kwang-Dong, et al.
Publicado: (2017)

Involvement of the Peripheral Nervous System in Episodic Ataxias
por: Koźmiński, Wojciech, et al.
Publicado: (2020)

Axonal Kainate Receptors Modulate the Strength of Efferent Connectivity by Regulating Presynaptic Differentiation
por: Sakha, Prasanna, et al.
Publicado: (2016)

Spastin locally amplifies microtubule dynamics to pattern the axon for presynaptic cargo delivery
por: Aiken, Jayne, et al.
Publicado: (2023)

Presynaptic Calcium Channels
por: Mochida, Sumiko
Publicado: (2019)

Autoimmune episodic ataxia in patients with anti-CASPR2 antibody-associated encephalitis
por: Joubert, Bastien, et al.
Publicado: (2017)

Nanoscale-Targeted Patch-Clamp Recordings of Functional Presynaptic Ion Channels
por: Novak, Pavel, et al.
Publicado: (2013)

Therapy of episodic ataxias: case report and review of the literature
por: Orsucci, Daniele, et al.
Publicado: (2019)

Vertical Saccadic Slowing in Episodic Ataxia Type 2
por: Kim, Seoyeon, et al.
Publicado: (2022)

Potassium and the Excitability Properties of Normal Human Motor Axons In Vivo
por: Boërio, Delphine, et al.
Publicado: (2014)

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
por: Higuchi, Yujiro, et al.
Publicado: (2018)

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
por: De Michele, Giovanna, et al.
Publicado: (2021)

Presynaptic Localization of Smn and hnRNP R in Axon Terminals of Embryonic and Postnatal Mouse Motoneurons
por: Dombert, Benjamin, et al.
Publicado: (2014)

Presynaptic protein Synaptotagmin1 regulates the neuronal polarity and axon differentiation in cultured hippocampal neurons
por: Inoue, Yuriko, et al.
Publicado: (2015)

Flux of signalling endosomes undergoing axonal retrograde transport is encoded by presynaptic activity and TrkB
por: Wang, Tong, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_l3s59idsb44mv3ks3evmtf56t2