Lucia Galli
Siena, Italy
Last Updated: 09/26/2026
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Found 11 publications
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
Journal: Neuromuscular disorders : NMD
Published: June 24, 2025
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Journal: The European journal of neuroscience
Published: December 24, 2021
Visual Cortex Engagement in Retinitis Pigmentosa.
Journal: International journal of molecular sciences
Published: July 20, 2021
The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family.
Journal: Neuropediatrics
Published: December 29, 2020
Preservation of Visual Cortex Plasticity in Retinitis Pigmentosa.
Journal: Neuroscience
Published: June 10, 2019
Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?
Journal: Frontiers in neurology
Published: December 11, 2018
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Journal: Human mutation
Published: April 01, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Journal: PloS one
Published: March 02, 2017
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
Journal: European journal of human genetics : EJHG
Published: April 30, 2014
Showing 1-11 of 11
Last Updated: 09/26/2026