Annarita Scardamaglia
3PUBLICATIONS
107CO-AUTHORS
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Publications (3)
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|May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian
|Feb 20, 2025
Partial loss of FITM2 function causes hereditary spastic paraplegia.Ainara Salazar-Villacorta, Laura M Bond, Leehyeon Kim
|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
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Frequent Collaborators
4 joint publications
Henry Houlden
3 joint publications
Kailash P Bhatia
2 joint publications
Francesca Magrinelli
2 joint publications
Robert Steinfeld
2 joint publications
Ayşe Nazlı Başak
2 joint publications
Ainara Salazar-Villacorta
2 joint publications
Aida M Bertoli-Avella
2 joint publications
Stephanie Efthymiou
2 joint publications
Tobias B Haack
2 joint publications
Reza Maroofian
