Author

T. Klopstock

h-index 9 View on Semantic Scholar

We have 2 of 28 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Review Open access Oct 2026

KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.

BACKGROUND A single recurrent variant, NM_004974.4(KCNA2):c.881G>A:p.(Arg294His), causes hereditary spastic paraplegia (HSP) through a unique variant-specific mechanism. Data from paralogous variants suggest that this may be a druggable mechanism. OBJECTIVE The objective of this work is to give an overview of the cli...

C. Boßelmann, M. Vyhnálek, Zuzana Blichová et al. · Movement Disorders · 0 citations

Open access Jul 2026

Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant

The value of large, well-characterized patient cohorts in identifying modifier loci and advancing knowledge of the mechanisms underlying phenotypic variability in mtDNA disease is highlighted, as each showed the strongest gene-level signals within the linkage region across complementary burden-testing methods.

R. Boggan, Theodora-Dafni Michalettou, Y. Ng et al. · Neurology: Genetics · 0 citations