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David P Murphy

4PUBLICATIONS
112CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Developmental genetics (incl. sex determination)Gene mappingModelling and simulation
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Journal

Publications (4)

Sort by Publication Date:
|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

|Jun 07, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Luciana Musante, Flavio Faletra, Kolja Meier

|Jan 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Barbara Vona, Neda Mazaheri, Sheng-Jia Lin

|Mar 26, 2019
MyoCount: a software tool for the automated quantification of myotube surface area and nuclear fusion index.

David P Murphy, Thomas Nicholson, Simon W Jones

Pageof 1

Frequent Collaborators

3 joint publications

Henry Houlden

2 joint publications

Barbara Vona

2 joint publications

Alexis Brice

2 joint publications

Robert Steinfeld

2 joint publications

Tobias B Haack

2 joint publications

Hermann Steller

2 joint publications

Suzanne Lesage

2 joint publications

Dario R Alessi

2 joint publications

Aida M Bertoli-Avella

2 joint publications

Ayşe Nazlı Başak

Frequent Collaborators

3 joint publications

Henry Houlden

2 joint publications

Barbara Vona

2 joint publications

Alexis Brice

2 joint publications

Robert Steinfeld

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