Nutan Sharma

Perisynaptic matrix gene variants underlie DystoniaGeneNet endophenotypes in isolated focal dystonia

This paper uses a deep learning model to identify genetic variants associated with isolated focal dystonia by leveraging neuroimaging endophenotypes.

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

Sustained activation in basal ganglia and cerebellum after repetitive movement in cervical dystonia

This paper investigates sustained fMRI BOLD signals in cervical dystonia patients after repetitive movement, finding abnormal activity in the putamen and cerebellum, and links these findings to cervical muscle function via sEMG.

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

The paper investigates how dystonia-specific mutations in THAP1 affect gene transcription related to neurodevelopment and myelin in iPSC-derived neural cells and mouse models.

The Dystonia Gene THAP1 Controls DNA Double Strand Break Repair Choice

This study identifies a transcriptional network involving THAP1 that regulates SHLD1 expression, affecting DNA repair choice and linking DNA damage to dystonia.

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.