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Authors whose works are in public domain in at least one jurisdiction

List of works by Stefania Magri

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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

scientific article
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias

scientific article published on April 2014
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.

scientific article published on 17 April 2016
Mutational mechanisms inMFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations

scientific article published on 01 December 2015
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.

scientific article published on 24 May 2016
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation

scientific article published on 6 March 2017
Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.

scientific article published on 25 January 2016
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019
Expanding the spectrum of genes responsible for hereditary motor neuropathies

scientific article published on 05 June 2019
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation

scientific article published on 21 April 2020

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