Micol Falabella
7PUBLICATIONS
51CO-AUTHORS
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Publications (7)
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|Sep 18, 2025
Validation of blue- and clear-native polyacrylamide gel electrophoresis protocols to characterize mitochondrial oxidative phosphorylation complexes.Jana Aref, Seungtae Lee, Supachaya Sriphoosanaphan
|Sep 16, 2024
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara
|Jul 31, 2024
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.Yuji Nakamura, Issei S Shimada, Reza Maroofian
|Nov 07, 2022
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.William L Macken, Micol Falabella, Caroline McKittrick
|Oct 18, 2022
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges.Micol Falabella, Michal Minczuk, Michael G Hanna
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Frequent Collaborators
5 joint publications
Robert D S Pitceathly
4 joint publications
Henry Houlden
3 joint publications
Reza Maroofian
3 joint publications
Chiara Pizzamiglio
3 joint publications
William L Macken
2 joint publications
Jan-Willem Taanman
1 joint publications
Maria Chiara Magnifico
1 joint publications
Ciro Leonardo Pierri
1 joint publications
Kristina Radić
1 joint publications
Luciana Chessa