Author

T. Grider

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Case report Open access Jul 2026

Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency

It is demonstrated that SCO2‐related disease can present as an isolated axonal neuropathy, a phenotype that remains rarely reported.

A. Rebelo, Katie L. Lutz, T. Grider et al. · Journal of the peripheral ne... · 0 citations

Case report Open access Aug 2026

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

There is moderate evidence that the two identified HARS1 variants are responsible for the recessive phenotype, suggesting that the allelic and clinical heterogeneity of HARS1‐related disease is expanded.

Christina Del Greco, Allison R. Cale, Karl Haeberlein et al. · Journal of the peripheral ne... · 0 citations