Paola Origone
Genoa, Italy
Last Updated: 09/26/2026
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Found 39 publications
The novel (TCTG)n motif in CNBP expanded alleles: composition, dynamics and genotype-phenotype correlation in Myotonic dystrophy type 2 (DM2).
Journal: Human genomics
Published: December 22, 2025
LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.
Journal: Parkinsonism & related disorders
Published: December 10, 2024
Clinical and metabolic profiles in behavioural frontotemporal dementia: Impact of age at onset.
Journal: Cortex; a journal devoted to the study of the nervous system and behavior
Published: June 11, 2024
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
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study.
Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: September 22, 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
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
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