Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
2018 · Brain · 111 citations
https://doi.org/10.1093/brain/awy285
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Silvia Fenu
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Silvia Fenu is an academic researcher from Fondazione IRCCS Istituto Neurologico Carlo Besta. The author has contributed to research in topics: Amyloidosis: Diagnosis, Treatment, Outcomes & Hereditary Neurological Disorders & Neurogenetic and Muscular Disorders Research. The author has an h-index of 13, co-authored 47 publications.
ORCID: 0000-0002-5233-6580Papers by this author
worksNormal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
2023 · Brain · 67 citations
https://doi.org/10.1093/brain/awad240
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
2023 · EBioMedicine · 52 citations
https://doi.org/10.1016/j.ebiom.2023.104931
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
2020 · Orphanet Journal of Rare Diseases · 44 citations
https://doi.org/10.1186/s13023-020-01633-z
Natural history of adult-onset metachromatic leukodystrophy
2025 · Journal of Neurology · 1 citations
https://doi.org/10.1007/s00415-025-12997-2
ATTRv amyloidosis Italian Registry: clinical and epidemiological data
2020 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.12849833
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