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J. Alvi

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#protein folding Open access Oct 2026

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function

The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.

Vera Garloff, M. Grimmel, R. Maroofian et al. · 0 citations
Open access Sep 2026

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes

IEM represent an important and potentially treatable cause of pediatric stroke, particularly in populations with high consanguinity, and recognition of characteristic clinical features, distinctive MRI patterns, and supportive EEG findings can facilitate early diagnosis.

J. Alvi, Areeba Wasim, Saher Gul Ahdi et al. · 0 citations

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