Manfred W. Kilimann

This study identifies Paralemmin-2 as a component of axon initial segments and nodes of Ranvier, showing its role in modulating the submembrane cytoskeleton and neuronal excitability.

The paper identifies a homozygous splice-site variant in PALM3 and a missense variant in OTOA in a family with autosomal recessive hearing loss, supporting PALM3 as a candidate gene through functional and comparative analysis.

This study identifies Paralemmin-3 as a critical protein for maintaining the structural integrity of the lateral wall in auditory hair cells, with its loss causing hearing impairment and structural collapse.

This study identifies Paralemmin-1 as a regulator of the neuronal submembrane cytoskeleton MPS, showing it enhances periodicity and is essential for its structure and function.

The paper examines changes in PSD protein composition across development in mice and primates, linking these changes to autism spectrum disorder.