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Author

Rocco Liguori

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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
Sep 2026

Accuracy of Antibody Testing in Myasthenia Gravis: The ADAM Study.

BACKGROUND AND OBJECTIVES Antibody testing has a pivotal role in the diagnosis of myasthenia gravis (MG). However, there are limited data on the accuracy of the different methods available for acetylcholine receptor (AChR) and muscle-specific kinase (MuSK) autoantibody (Ab) detection in a real-world setting. Our aim wa...

M. P. Giannoccaro, Lucrezia Serra, A. Grondona 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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