Francesca Sanguineri
Genoa, Italy
Last Updated: 09/26/2026
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Found 10 publications
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.
Journal: Journal of the peripheral nervous system : JPNS
Published: May 22, 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
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
Journal: BMC nephrology
Published: September 27, 2023
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
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Journal: Pediatric neurology
Published: September 05, 2022
COVID-19 in Children with Nephrotic Syndrome on Anti-CD20 Chronic Immunosuppression.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: July 29, 2020
Risk of COVID-19 in young kidney transplant recipients. Results from a single-center observational study.
Journal: Clinical transplantation
Published: April 24, 2020
Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients.
Journal: Neuro-degenerative diseases
Published: January 08, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026