Sekar Deepha
Bengaluru, KA, India
Last Updated: 09/26/2026
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Found 12 publications
Establishment of human induced pluripotent stem cell line, NIMHi020-A from fibroblasts of a patient with IBA57 variant (p.Tyr113Cys).
Journal: Stem cell research
Published: May 24, 2025
A human induced pluripotent stem cell line, NIMHi016-A, established from fibroblasts of a neuromuscular disease patient carrying PGK1/p. Asn5Lys variant.
Journal: Stem cell research
Published: October 25, 2024
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.
Journal: Annals of human genetics
Published: April 26, 2024
Diagnosis of primary mitochondrial disorders -Emphasis on myopathological aspects.
Journal: Mitochondrion
Published: July 15, 2021
Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform.
Journal: Journal of neurology
Published: May 24, 2021
Serum fibroblast growth factor 21 and growth differentiation factor 15: Two sensitive biomarkers in the diagnosis of mitochondrial disorders.
Journal: Mitochondrion
Published: May 02, 2021
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Journal: Journal of neurology
Published: July 31, 2020
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Journal: Journal of molecular neuroscience : MN
Published: June 10, 2020
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
Journal: BMC medical genetics
Published: April 11, 2016
Showing 1-12 of 12
Last Updated: 09/26/2026