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Author

Raffaele Lodi

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3 papers indexed here

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Open access Oct 2026

Nanopore sequencing combined with adaptive sampling and NanoExpansion enables accurate characterization of repeat expansion disorders

Abstract Expansion repeat disorders are caused by abnormal expansions of short tandem repeats (STRs). We evaluated targeted long-read nanopore sequencing for comprehensive characterization of STR expansions in 132 participants, including patients with myotonic dystrophy type 1 (DM1, n = 51) and DM2 (n = 3) already char...

Luca Morandi, F. Casadei, S. De Fanti et al. · 0 citations
Open access Jul 2026

Association of GBA1 status and sex with depression severity and progression in Parkinson's disease.

GBA1 variants increase neuropsychiatric vulnerability in Parkinson's disease (PD). In a multicenter cohort of 234 PD patients (78 GBA-PD, 156 nonGBA-PD), we investigated how GBA1 genotype and sex relate to depression. REM sleep behavior disorder was associated with depression in GBA-PD, while sex, cognition, and motor...

P. Mitrotti, M. Avenali, C. Artusi et al. · 0 citations
Case report Open access Aug 2026

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder

This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.

Irene Ambrosetti, F. Palombo, Diego D'Angeli et al. · 0 citations

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