EMBO Molecular Medicine

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10.12.2019

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype

Authors Yigit G, Saida K, DeMarzo D, Miyake N, Fujita A, Yang Tan T, White SM, Wadley A, Toliat MR, Motameny S, Franitza M, Stutterd CA, Chong PF, Kira R, Sengoku T, Ogata K, Guillen Sacoto MJ, Fresen C, Beck, BB, Nurnberg P. Dieterich C, Wollnik B, Matsumoto N, Altmuller
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22.07.2019

Molecular contribution function in RESOLFT nanoscopy

Authors Frahm L, Keller-Findeisen J, Alt P, Schnorrenberg S, Del Alamo Ruiz M, Aspelmeier T, Munk A, Jakobs S, Hell SW Journal Optics Express Citation Opt Express. 2019 Jul 22;27(15):21956-21987. Abstract BACKGROUND: The ultimate objective of a microscope of the highest resolution is to map the molecules of interest in
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05.01.2019

A dual-AAV approach restores fast exocytosis and partially rescues auditory function in deaf otoferlin knock-out mice

Authors Al-Moyed H, Cepeda A P, Jung S, Moser T, Kugler S, Reisinger E Journal EMBO Molecular Medicine Citation EMBO Mol Med (2019) 11: e9396. Abstract Normal hearing and synaptic transmission at afferent auditory inner hair cell (IHC) synapses require otoferlin. Deafness DFNB9, caused by mutations in the OTOF gene
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