Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
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The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialZebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formationTrio-based exome sequencing arrests de novo mutations in early-onset high myopiaCav1.4 L-Type Calcium Channels Contribute to Calpain Activation in Degenerating Photoreceptors of rd1 Mice.TMEM16A is associated with voltage-gated calcium channels in mouse retina and its function is disrupted upon mutation of the auxiliary α2δ4 subunit.Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia.Retinoschisin Facilitates the Function of L-Type Voltage-Gated Calcium Channels.Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Altered synaptic transmission at olfactory and vomeronasal nerve terminals in mice lacking N-type calcium channel Cav2.2.Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 26 October 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.
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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.
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type
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Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.
@en
Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.
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prefLabel
Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.
@en
Mosaic synaptopathy and functi ...... e and human carriers of CSNB2.
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P2093
P2860
P356
P1476
Mosaic synaptopathy and functi ...... ce and human carriers of CSNB2
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P2093
Birgit Lorenz
Christian A Wahl-Schott
Christian Hamel
Christoph Friedburg
Isabelle Meunier
Lior Shaltiel
Marie-Elise Lancelot
Marina Garcia Garrido
Markus N Preising
Martin Biel
P2860
P304
P356
10.1093/HMG/DDT541
P577
2013-10-26T00:00:00Z