Concepedia

Manuela Spagnolo

MS

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Publications

4

Citations

124

H-Index

4

Active since

2001

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

University of Milan

Manuela Spagnolo is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in ophthalmology, molecular genetics, and medicine.

ORCID

Top concepts

Publications per year

2001–2020

4

Publications

4

A new mutation in the mitochondrial tRNAAla gene in a patient with ophthalmoplegia and dysphagia

Manuela Spagnolo, Giuliano Tomelleri, Gaetano Vattemi et al. · Neuromuscular Disorders · 2001 · 45 citations

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Paraoxonase, arylesterase and lactonase activities of paraoxonase-1 (PON1) in obese and severely obese women

Carlo Cervellati, Gloria Bonaccorsi, Alessandro Trentini et al. · Scandinavian Journal of Clinical and Laboratory Investigation · 2017 · 33 citations · Full text

Bi‐allelic pathogenic variants in <i>NDUFC2</i> cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Ahmad Alahmad, Alessia Nasca, Juliana Heidler et al. · EMBO Molecular Medicine · 2020 · 28 citations · Full text

Homozygous mutations in <i>C1QBP</i> as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions

Silvia Marchet, Andrea Legati, Alessia Nasca et al. · Human Mutation · 2020 · 18 citations

, , +15

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