Ilka Maus: Plastin 3: Unraveling of novel pathomechanisms for bone and cartilage diseases

Björn Reusch: MAGED2: the gene associated with Bartter syndrome type 5 is a key regulator of Gαs signaling in the developing kidney

Sarah Buchholz: Investigating human TAU isoform-specific functions and their toxicity in Alzheimer's Disease and related tauopathies

Anixa Muinos-Bühl: Development of antisense oligonucleotide combinatorial therapies for spinal muscular atrophy (SMA)

Charlotte Veltman: Characterization of novel potential binding partners of Plastin 3, a protective modifier of Spinal Muscular Atrophy

Andrea Delle Vedove: Identification and Functional Assessment of Novel Neuromuscular Disease-Causing Genes

Eike Strathmann: Epigenetic regulation of PLS3 by the microsatellite DXZ4 and transcriptional regulator CHD4

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: Genetic analysis of patients with a clinical diagnosis of motor neuron disease using gene panel sequencing and exome sequencing

Daniel Bamborschke: Genetic causes of steroid-resistant nephrotic syndrome

Lilian Andrea Martinez Carrera: Identification and functional 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: Identification of genetic causes in patients with motor neuron diseases using gene-specific panels and exome sequencing

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: Molecular cause of familial distal 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: Molecular mechanisms of isolated and syndrome-associated lipid metabolic disorders

Miriam Jakubik: Generation and characterization of conditional Bdp1-knock-outs mouse models - analyses of the transcription factor IIIB complex

Sebastian Seufert: Inhibition of glioblastoma-mediated secretion of glutamate and pro-migratory TGF-beta: Investigation of anti-tumor activity in vitro, ex vivo and 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: Identification and characterization of ATP13A2 variants and their significance for neurodegenerative diseases

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

Barbara Pawlik: Molecular mechanisms of congenital limb malformations

Inga Ebermann: Identification and functional characterization of Usher syndrome genes

Boidinh Chung: Molecular genetic and functional analyses of the LRP5 gene in an osteoporosis-pseudoglioma syndrome-like phenotype

Barbara Stiller: Characterization of the P-type ATPase Ypk9 in Saccharomyces cerevisiae as a model for the ATP13A2-related form of neurodegeneration

Jan Henning Hauke: Molecular analysis of the epigenetic regulation of SMN2 gene activity in the pathogenesis of spinal muscular atrophy (SMA)

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

Christopher Betzler: Disease progression of spinal muscular atrophy (SMA) type 1 depending on functional and molecular genetic parameters