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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

A. Moirangthem

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Open access Sep 2026

Tiered genetic testing reveals CACNA1A allelic series and RNA modeling elucidates repeat expansion mechanism in an Indian spinocerebellar ataxias cohort

Spinocerebellar ataxias (SCAs) represent a heterogeneous group of neurodegenerative disorders with significant diagnostic challenges, particularly in genetically underrepresented populations. While tiered genetic testing approaches have been previously applied in Indian cohorts, diagnostic gaps persist with appro...

Pooja Ghugtyal, Bhaskar Pant, Anshika Srivastava et al. · 0 citations
Jul 2026

Genotypic and Phenotypic Profile of Hereditary Spastic Paraplegia in Children: A Single-Centre Study from Northern India.

HSP should be suspected in cases with slowly progressive spasticity in lower limbs, even without a family history, which may mimic cerebral palsy, and five novel variants and some recurrent variants, suggesting potential founder effects, were noted.

Niladri Das, Arya Shambhavi, Haseena Sait et al. · 0 citations
Open access Jul 2026

Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants

A single ATP7B LOF variant, especially c.813C>A was associated with advanced liver disease, portal hypertension, and extrahepatic involvement and over a follow-up of 6.7 years, a single LOF variant did not show a poorer liver or overall outcomes in comparison to ≥2 LOF variants.

A. K. Mishra, M. Sarma, Anchal Dubey et al. · 0 citations

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