Clarissa Ponti
Genoa, 16132, Italy
Last Updated: 09/26/2026
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Found 8 publications
GWAS by Subtraction to Disentangle RBD Genetic Background from α-Synucleinopathies.
Journal: International journal of molecular sciences
Published: March 17, 2025
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
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
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Journal: Frontiers in neurology
Published: August 28, 2023
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Journal: Pediatric neurology
Published: September 05, 2022
Showing 1-8 of 8
Last Updated: 09/26/2026