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  1. Article

    Transcriptome–pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS

    Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive. To identify molecular si...

    Florian Krach, Ranjan Batra, Emily C. Wheeler, Anthony Q. Vu in Acta Neuropathologica (2018)

  2. Article

    Open Access

    Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis

    Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in motor neurons (MN) are hal...

    Florian Krach, Emily C. Wheeler, Martin Regensburger in Acta Neuropathologica (2022)

  3. Article

    Open Access

    Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

    Biallelic loss of SPG11 function constitutes the most frequent cause of complicated autosomal recessive hereditary spastic paraplegia (HSP) with thin corpus callosum, resulting in progressive multisystem neurodeg...

    Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras in Acta Neuropathologica (2024)