Michael Zech

63PUBLICATIONS
256CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)NeurogeneticsMedical infection agents (incl. prions)
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Publications (63)

|Aug 14, 2026
Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

|Jul 09, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

|Jun 03, 2026
Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype.

|May 27, 2026
Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Apr 14, 2026
CACNA1C -Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological Presentation.

Donatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi

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Frequent Collaborators

10 joint publications

Robert Jech

9 joint publications

Elisabetta Indelicato

7 joint publications

Matias Wagner

6 joint publications

Alessio Di Fonzo