Manuel Fischer

Gene Supplementation of MYO7A or activation of Myo7b for treatment of Usher syndrome 1B

David Manuel Mittas, Dina Otify, Zoran Gavrilov, Thomas Heigl et autres

Abstract Mutations in MYO7A result in the most severe subtype of Usher syndrome, the leading genetic cause of deafblindness. The large size of MYO7A requires dual adeno-associated virus (AAV) vectors for gene transfer or alternative methods to treat retinal defects. Here, we …

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Artificial intelligence applications in inherited retinal dystrophies

Petèr Király, Manuel Fischer

PURPOSE: Inherited retinal dystrophies (IRDs) are a heterogeneous group of diseases characterized by genotypic and phenotypic variability and are among the leading causes of blindness in the working-age population in developed countries. Despite advancements in genetic testing, obtaining a molecular diagnosis remains …

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Tissue remodeling after ischemic stroke influences brain biomechanics and can be captured with MR Elastography

Rebecca Zierold, Roland Zerelles, Pinar Kilic, Maria Harlacher et autres

Motivation: Tissue regeneration and reorganization following ischemic stroke are of clinical interest, but are not fully assessable with routinely used imaging techniques. Goal(s): Determine if post-ischemic brain tissue changes alter brain biomechanics rendering the quantifiable with MR Elastography. Approach: The MCAO stroke …

Morphological and Functional Outcomes in the Long-Term Natural Course of Peripapillary Pachychoroid Syndrome

Christina Karakosta, Petèr Király, Anastasios Bisoukis, Konstantinos I. Bougioukas et autres

INTRODUCTION: This study investigated the long-term natural history of peripapillary pachychoroid syndrome (PPS), analyzing both morphological and functional outcomes. METHODS: This retrospective study included 24 eyes from 14 participants diagnosed with PPS. No interventions were administered. Baseline and follow-up assessments comprised best-corrected …

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Tipi di marcatori genetici: Cosa possono rivelare?

CN Buser, Sarah K. Richman, Manuel Fischer, C Grossen et autres

Types of genetic markers: What can they reveal?

CN Buser, PGD Feulner, Sarah K. Richman, Manuel Fischer et autres

Genetic diversity is the foundation of evolution, and thus a key requirement for adaptation to environmental changes Genetic diversity informs about current population vulnerability, but also about past and ongoing evolutionary processes Biodiversity occurs at different levels, and each level should be …

Genetica della conservazione in pratica: Come pianificare un progetto?

CN Buser, Sarah K. Richman, Manuel Fischer, C Grossen et autres

Les types de marqueurs et ce qu'ils peuvent nous dire

CN Buser, Sarah K. Richman, Manuel Fischer, C Grossen et autres

Concepts de génétique des populations

CN Buser, PGD Feulner, Sarah K. Richman, Manuel Fischer et autres

Valeur sélective (fitness) -le succès d'un individu au cours de son cycle de vie, reflété par la quantité et la qualité de sa descendance à la génération suivante Diversité génétique adaptative -fraction de la variation génétique ayant un effet sur la fitness …

Conservation genetics in practice: How to plan a project?

CN Buser, PGD Feulner, Sarah K. Richman, Manuel Fischer et autres

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Konzepte der Populationsgenetik

CN Buser, PGD Feulner, Sarah K. Richman, Manuel Fischer et autres

Fitness -Erfolg eines Individuums während seines Lebenszyklus, der sich in der Menge und Qualität der Nachkommen widerspiegelt, die es in die nächste Generation einbringt Anpassungsrelevante genetische Vielfalt -Anteil der genomischen Variation, die sich auf die Fitness eines Individuums auswirkt Anpassungsfähigkeit -Fähigkeit einer …

Arten von genetischen Markern: Was können sie aussagen?

CN Buser, PGD Feulner, Sarah K. Richman, Manuel Fischer et autres

Genetische Vielfalt ist die Grundlage der Evolution und damit eine entscheidende Voraussetzung für die Anpassung an Umweltänderungen Genetische Vielfalt informiert über die aktuelle Gefährdung einer Population, aber auch über vergangene und laufende evolutive Prozesse Biodiversität umfasst drei unterschiedliche Ebenen, und jede Ebene …