Gianna Berti
Siena, 53100, Italy
Last Updated: 09/26/2026
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Found 11 publications
The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.
Journal: Biomolecules
Published: August 12, 2025
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
Journal: Neuromuscular disorders : NMD
Published: June 24, 2025
G-Protein-Coupled Estrogen Receptor (GPER) in Inflammatory Myopathies.
Journal: Neurology international
Published: June 09, 2025
CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.
Journal: Cells
Published: July 21, 2024
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Journal: Cells
Published: December 15, 2023
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 17, 2021
Glomerular filtration rate is associated with trabecular bone score in patients with type 2 diabetes mellitus.
Journal: Diabetes research and clinical practice
Published: February 14, 2020
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
Amyloid Arthropathy: When the Rheumatologist Meets the Hematologist.
Journal: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases
Published: July 29, 2016
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 12, 2015
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 07, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026