Doctoral Theses


Franziska Nolte: Uncovering vesicular trafficking defects underlying PLS3 mediated osteoclast dysfunction


Maximilan Paul Thelen: Defective Mitochondria Contribute to Impaired Translation in Spinal Muscular Atrophy


Christian Ulrich Thomas Hoffmann: Sphingosine-1 phosphate receptor 1 and 2 as part of a possible affected pathway in spinal muscular atrophy and drug target of FTY720


Mert Karakaya: Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology

Janine Neugebauer: Uncovering the role of Plastin 3 in bone homeostasis

Wiebke Rehorst: Muscle-secreted factors in spinal muscular atrophy: CTRP3 at the interface of muscle and neuron


Ines Gil Concalvez: MicroRNAs in spinal muscular atrophy: mechanisms underlying microRNA dysregulation in motor neuron disease

Eva Janzen: Novel Modifiers for Inherited Neurogenerative Disorders - Spinal Muscular Atrophy and Ataxia

Aaradhita Upadhyay: Neurocalcin delta (NCALD) knockout impairs adult neurogenesis whereas half reduction is a safe therapeutic option for spinal muscular atrophy


Shahida Moosa: Next-generation-sequencing in the clinic: novel genes and novel mutations resolve the diagnostic odyssey for patients with undiagnosed genetic disoders

Natalia Mendoza-Ferreira: Uncovering and Functional Analysis of Novel Genes and Potential Genetic Modifiers for Neuromuscular Disorders

Svenja Schneider: Identification and Characterization of Spinal Muscular Atrophy (SMA) Modifiers - Insight from Cellular and Vertebrate Disease Models

Lea Schmitz-Steinkrüger: Genetische Analyse von Patienten mit der klinischen Diagnose einer Motoneuronerkrankung mittels Genpanel-Sequenzierung und Exom-Sequenzierung

Daniel Bamborschke: Genetische Ursachen des Steroidresistenten Nephrotischen Syndroms

Lilian Andrea Martinez Carrera: Identification and funktional characterization of BICD2 mutations causing SMALED2, a congenital dominant form of spinal muscular atrophy

Miriam Peters: Combined therapy of SMN-ASO and Plastin 3 overexpression rescues severe SMA in mice


Seyyedmohsen Hosseinibarkooie: Identification and characterization of molecular pathways underlying the modifier function of Plastin 3 in neurodegenerative disorders

Anna Kaczmarek: Analysis of reduced Neurocalcin delta (NCALD) as a protective modifier in mouse model of Spinal Muscular Atrophy (SMA)


Andrea Pannes: Novel Functional and Genetic Findings in Autosomal Dominant Tubulointerstitial Kidney Disease

Leyla Naghiyeva: Identifizierung der genetischen Ursachen bei Patienten mit Motoneuronen-Erkrankungen mittels genspezifischer Panels und Exom Sequenzierung

Yicheng Liu: New insights into the molecular pathogenesis of accelerated aging phenotypes in Hallermann-Streiff and Bloom syndromes


Markus Storbeck: Characterization of Neuronal-Specific Tra2B Knock-Out Mice and Identification of Tra2b Splicing Targets

Ludwig Heesen: Analyses of spinal muscular atrophy (SMA) modifiers and drug-dependent responses using motoneurons (MNs) derived from induced pluripotent stem cells (iPSCs)

Filippo Beleggia: Innovative strategies for gene identification and functional analysis of progeria syndromes


Ibrahim Köskeroglu: Molekulare Ursache bei familiärer distaler Arthrogryposis

Esther Pohl: Molecular Pathogenesis of Selected Autosomal Recessively Inherited Disorders: From Gene to Function

Katharina Keupp: Novel Insights into molecular mechanisms on inherited bone disorders


Nadine Plume: Molekulare Mechanismen isolierter und Syndrom-assoziierter Lipidstoffwechselstörungen

Miriam Jakubik: Generierung und Charakterisierung von konditionalen Bdp1-knock-outs-Mausmodellen - Analysen des Transkriptionsfaktor IIIB-Komplexes

Sebastian Seufert: Inhibition der Glioblastom-vermittelten Sekretion von Glutamat und pro-migratorischem TGF-Beta: Untersuchung der anti-Tumoraktivität in vitro, ex vivo und in vivo

Bastian Ackermann: Analysis of the modifying influence of Plastin 3 (PLS3) on spinal muscular atrophy (SMA) by generation of transgenic mouse models


André Heimbach: Identifizierung und Charakterisierung von ATP13A2-Varianten und ihre Bedeutung für neurodegenerative Erkrankungen

Lutz Garbes: Histone deacetylase inhibitors for the epigenetic therapy of proximal spinal muscular atrophy

Barbara Pawlik: Molecular mechanisms of congenital limb malformations


Inga Ebermann: Identifizierung und funktionelle Charakterisierung von Genen des Usher-Syndroms

Boidinh Chung: Molekulargenetische und funktionelle Analysen des LRP5-Gens bei einem Osteoporosis-Pseudoglioma-Syndrom-ähnlichen Phänotyp

Barbara Stiller: Charakterisierung der P-Typ ATPase Ypk9 in Saccharomyces cerevisiae als Modell für die ATP13A2-bedingte Form der Neurodegeneration

Jan Henning Hauke: Molekulare Analyse der epigenetischen Regulation der SMN2-Genaktivität in der Pathogenese der spinalen Muskelatrophie (SMA)

Markus Rießland: In vitro and in vivo characterisation of histone deacetylase inhibitors as potential therapeutics for autosomal recessive proximal spinal muscular athrophy (SMA)

Christopher Betzler: Krankheitverlauf der spinalen Muskelatrophie (SMA) Typ 1 in Abhängigkeit von funktionellen und molekulargenetischen Parametern

Doctoral Theses 2004–2008
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