Abstract Amyotrophic lateral sclerosis is increasingly recognized as a multisystem neurodegenerative disorder, and recent evidence suggests that the cerebellum may contribute to disease pathology, although cerebellar metabolic alterations have not previously been demonstrated in vivo. This study investigated cerebellar...
G. Vornetti, F. Punzetti, V. Vacchiano et al.· Brain Communications· 0 citations
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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