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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

E. Matthews

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2 papers indexed here

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Review Open access Sep 2026

Treatment updates in myotonic disorders

Myotonia is delayed muscle relaxation after forceful contraction. It is due to hyperexcitability of the skeletal muscle membrane. It can arise from primary skeletal muscle ion channel dysfunction, involving chloride or sodium channels, but is also a prominent clinical feature in myotonic dystrophies where altered RNA s...

E. Matthews, M. Specterman, K. Mul · 0 citations
Open access Sep 2026

Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy.

Only 14 individuals have been thus far described with GlyT1 encephalopathy due to biallelic variants in the SLC6A9 gene and the phenotypic picture is incomplete. Early mortality has been high, with only two known to survive into infancy. We report a 27-year-old individual who, to our knowledge, is the eldest person des...

M. Mencias, Meneka Kanagaratnam, E. Matthews · 0 citations

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