Maureen Jacob

2PUBLICATIONS

13CO-AUTHORS

NanomanufacturingNeurology and neuromuscular diseases

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Publications (2)

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|Sep 08, 2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

|Aug 14, 2026

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

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Frequent Collaborators

2 joint publications

Susann Badmann

2 joint publications

Elisabeth Graf

2 joint publications

Theresa Brunet

2 joint publications

Holger Prokisch

2 joint publications

Juliane Winkelmann

2 joint publications

Michael Zech

2 joint publications

Matias Wagner

1 joint publications

Alice Saparov

1 joint publications

Christina Ludwig

1 joint publications

Stefania Bigoni

Frequent Collaborators

2 joint publications

Susann Badmann

2 joint publications

Elisabeth Graf

2 joint publications

Theresa Brunet

2 joint publications

Holger Prokisch