Gigliola Fagiolari
Milan, Italy
Last Updated: 09/26/2026
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Found 21 publications
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Journal: Annals of neurology
Published: October 01, 2020
Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia.
Journal: Science translational medicine
Published: August 04, 2020
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2019
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.
Journal: EMBO molecular medicine
Published: October 13, 2018
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Journal: Human mutation
Published: September 10, 2018
Expanding the histopathological spectrum of CFL2-related myopathies.
Journal: Clinical genetics
Published: December 04, 2017
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
Journal: Neuropathology and applied neurobiology
Published: March 17, 2017
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.
Journal: Journal of neuroscience research
Published: March 16, 2017
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.
Journal: Acta neuropathologica communications
Published: April 23, 2016
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
Journal: American journal of human genetics
Published: April 15, 2015
Last Updated: 09/26/2026