Ashirwad Merve

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

This study uses spatial transcriptomics to show mitochondrial dysfunction in JDM muscle tissue, independent of interferon-driven inflammation.

This study identifies cryptic epitopes from de novo proteins caused by TDP-43 pathology as targets of CD8+ T cell activation in ALS and IBM.

This study generates human cerebellar organoids to model medulloblastoma subgroups G3 and G4, showing their ability to sustain tumor growth and respond to anti-tumour compounds.

This study demonstrates that clinical metagenomics improves diagnostic outcomes for undiagnosed complex paediatric neurological cases, particularly in immunocompromised patients.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.