Arti Saini

Deoghar, OR, India

Last Updated: 09/26/2026

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Found 15 publications

Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions.

Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 23, 2026

VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.

VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.

Journal: Movement disorders clinical practice
Published: May 13, 2025

Persistent labial adhesions in a reproductive-age patient masquerading as urethrovaginal fistula.

Persistent labial adhesions in a reproductive-age patient masquerading as urethrovaginal fistula.

Journal: BMJ case reports
Published: January 27, 2025

Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.

Clinical Reasoning: A 50-Year-Old Man With Ataxia, Dystonia, and Abnormal Ocular Movements.

Journal: Neurology
Published: November 12, 2024

Genetic Landscape of Dystonia in Asian Indians.

Genetic Landscape of Dystonia in Asian Indians.

Journal: Movement disorders clinical practice
Published: September 25, 2024

Generation of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene.

Generation of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene.

Journal: Stem cell research
Published: June 10, 2024

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Journal: Movement disorders clinical practice
Published: June 04, 2024

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.

Journal: Parkinsonism & related disorders
Published: February 17, 2024

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

Journal: Annals of neurosciences
Published: December 12, 2023

Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.

Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 06, 2023

Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.

Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.

Journal: Movement disorders clinical practice
Published: May 02, 2023

GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis.

GPi-DBS for KMT2B-Associated Dystonia: Systematic Review and Meta-Analysis.

Journal: Movement disorders clinical practice
Published: June 19, 2021
Showing 1-12 of 15

Last Updated: 09/26/2026