Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. (Q37593044)

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28 February 2020

title

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2 (English)

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28 February 2020

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7

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Isabelle Audo

8

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1

Stylianos Michalakis

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20

Martin Biel

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28 February 2020

author name string

Lior Shaltiel

2

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Vithiyanjali Sothilingam

3

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Susanne Koch

4

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Verena Schludi

5

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Stefanie Krause

6

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Marie-Elise Lancelot

9

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Christian Hamel

10

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Isabelle Meunier

11

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Markus N Preising

12

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Christoph Friedburg

13

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Birgit Lorenz

14

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Nawal Zabouri

15

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Silke Haverkamp

16

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Marina Garcia Garrido

17

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Naoyuki Tanimoto

18

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Mathias W Seeliger

19

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Christian A Wahl-Schott

21

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publication date

26 October 2013

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28 February 2020

published in

Human Molecular Genetics

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volume

23

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issue

6

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28 February 2020

page(s)

1538-1550

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A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family

28 February 2020

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23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24163243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24163243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The absence of Complexin 3 and Complexin 4 differentially impacts the ON and OFF pathways in mouse retina

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24163243

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT541

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24163243%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

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28 February 2020

PubMed publication ID

24163243

1 reference