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Furthermore, the top 10 down regulated metabolites were Eicosapentaenoic acid, 1,4-Benzothiazine-O-quinonimine, Irilone de Iris, Hovenidulcioside B1, 2-Methyl-3-hydroxyphenylpropionic acid, Propionylcholine, cis-4- Hydroxycyclohexylacetic acid, N-Phenyl-1-naphthylamine, Coumarin, and 5,7,4-Trihydroxy-3-methoxyflavanone 4-O-isobutyrate metabolites (Figure 3B)

To date, eight different variants, including three frameshift mutations (37.5%), two missense mutations (25.0%), one nonsense mutation (12.5%), one copy number mutation (12.5%), and one six-base in-frame deletion (12.5%), have been reported in China in 10 patients from nine unrelated families (Table 1)

BDNF supports the survival and function of sensory and motor neurons, and its deficiency contributes to nerve degeneration

Finally, translating laboratory research findings into clinical applications faces the challenge of the translational gap