Tawfiq Froukh

10PUBLICATIONS
133CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Medical biochemistry - proteins and peptides (incl. medical proteomics)Flight dynamicsCross-sectional analysis
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Publications (10)

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

|Aug 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Emily Banks, Vincent Francis, Sheng-Jia Lin

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Mar 06, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

Chiara Giovenino, Slavica Trajkova, Lisa Pavinato

|Oct 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Lucia Laugwitz, Annette Seibt, Diran Herebian

|Jun 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.

Christina K Rapp, Ine Van Dijck, Lucia Laugwitz

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Frequent Collaborators

5 joint publications

Tobias B Haack

4 joint publications

Henry Houlden

3 joint publications

Reza Maroofian

3 joint publications

Stephanie Efthymiou