Arya Shambhavi

Raebareli Road
Lucknow, UP 226014, India

Last Updated: 09/26/2026

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Found 9 publications

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

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

Journal: Indian pediatrics

Published: July 23, 2025

Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.

Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.

Journal: Clinical genetics

Published: February 10, 2025

Understanding and issues related to next-generation sequencing among educated laypersons in India.

Understanding and issues related to next-generation sequencing among educated laypersons in India.

Journal: Journal of genetic counseling

Published: February 04, 2024

Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.

Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.

Journal: Indian journal of pediatrics

Published: December 27, 2022

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

Journal: Neurogenetics

Published: November 07, 2022

T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.

T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.

Journal: American journal of medical genetics. Part A

Published: October 08, 2022

Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.

Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.

Journal: European journal of medical genetics

Published: January 05, 2022

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.

Journal: Clinical dysmorphology

Published: November 30, 2021

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

Journal: American journal of medical genetics. Part A

Published: January 04, 2021

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Last Updated: 09/26/2026