Controlled studies have demonstrated that light supplementation benefits circadian entrainment, sleep and mood. Translating these findings into effective, real‐world usage of light supplementation is, however, challenging because naturalistic and supplemental light exposure are shaped by personal habits and environment...
D. Constantino, Flavia Baccari, L. Caporali et al.· Journal of Pineal Research· 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
Carelli et al. argue that new insights into how NQO1 influences the response to idebenone warrant reevaluating the results of previous clinical trials, including those in Friedreich ataxia and Duchenne muscular dystrophy, using patient stratification by NQO1 genotype.
V. Carelli, Martina Romagnoli, F. Fortuna et al.· Brain : a journal of neurolo...· 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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