Serena Patrone
Genoa, Italy
Last Updated: 09/26/2026
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Found 13 publications
Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.
Journal: Frontiers in cardiovascular medicine
Published: August 25, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Journal: Frontiers in genetics
Published: June 02, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Journal: Journal of medical genetics
Published: March 27, 2024
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Journal: Journal of the peripheral nervous system : JPNS
Published: March 08, 2024
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Journal: Journal of the peripheral nervous system : JPNS
Published: September 07, 2023
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: August 03, 2023
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Journal: Pediatric neurology
Published: September 05, 2022
A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
Journal: Parkinsonism & related disorders
Published: May 10, 2022
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Journal: Life (Basel, Switzerland)
Published: January 31, 2022
Last Updated: 09/26/2026