Melania Giannotta
Bologna, Italy
Last Updated: 09/26/2026
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Found 20 publications
X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.
Journal: Journal of neurology
Published: January 21, 2026
Emerin is necessary for microtubule-organizing center translocation to the nuclear envelope of muscle cells.
Journal: Cell death & disease
Published: September 23, 2025
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20.
Journal: Journal of neuromuscular diseases
Published: September 18, 2025
Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.
Journal: Cells
Published: July 18, 2025
Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.
Journal: Frontiers in genetics
Published: March 06, 2025
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Journal: Brain : a journal of neurology
Published: July 08, 2024
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Journal: Neurology. Genetics
Published: April 03, 2023
Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 20, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Journal: Acta neuropathologica communications
Published: February 03, 2022
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: October 27, 2021
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Journal: JAMA neurology
Published: November 29, 2017
West syndrome in three patients with brain injury and a benign course.
Journal: Epilepsy & behavior case reports
Published: December 15, 2016
Last Updated: 09/26/2026