BACKGROUND
Neurofilament light chain (NfL) is an established biomarker for amyotrophic lateral sclerosis (ALS). However, it remains unclear whether biomarkers reflecting amyloid-β metabolism (Aβ), tau (phosphorylated tau, pTau), and astrogliosis (glial fibrillary acidic protein, GFAP) can complement NfL in clinical app...
Kazuki Obara, S. Janelidze, Daisuke Ito et al.· EBioMedicine· 0 citations
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
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
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.· International Journal of Mol...· 0 citations
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