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James Jepson

4PUBLICATIONS
83CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Proteins and peptidesEpigenetics (incl. genome methylation and epigenomics)
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Publications (4)

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

|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

|Jan 15, 2021
Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.

Patrick Kratschmer, Simon A Lowe, Edgar Buhl

|Mar 14, 2019
Neurocalcin regulates nighttime sleep and arousal in <i>Drosophila</i>.

Ko-Fan Chen, Simon Lowe, Angélique Lamaze

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Frequent Collaborators

3 joint publications

Aida M Bertoli-Avella

3 joint publications

Ayşe Nazlı Başak

3 joint publications

Henry Houlden

3 joint publications

Alexis Brice

3 joint publications

Dario R Alessi

3 joint publications

Kailash P Bhatia

3 joint publications

Tobias B Haack

3 joint publications

Andrey Y Abramov

3 joint publications

Hermann Steller

3 joint publications

Suzanne Lesage

Frequent Collaborators

3 joint publications

Aida M Bertoli-Avella

3 joint publications

Ayşe Nazlı Başak

3 joint publications

Henry Houlden

3 joint publications

Alexis Brice

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