Author

S. De Pasqua

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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. · NAR Genomics and Bioinformat... · 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. · Neurology · 0 citations