David P Murphy
4PUBLICATIONS
112CO-AUTHORS
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Publications (4)
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|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
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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
