Ramya Sukrutha
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Explore the profile of Ramya Sukrutha including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Nimonkar M, Arunachal G, Kotambail A, Sukrutha R, Raghavendra K, Chetan G, et al.
Stem Cell Res
. 2025 Feb;
84:103672.
PMID: 39923287
We report the iPSC line NIMHi014-A, generated from the PBMCs of an epileptic girl child. The proband harbours a de novo, pathogenic variant of the SCN1A gene, which encodes the...
2.
Gupta M, Sangeeth T, Sukrutha R, Udupi G, Kumar R, Nanjegowda N, et al.
Ann Indian Acad Neurol
. 2025 Jan;
28(1):128-131.
PMID: 39808070
No abstract available.
3.
Ananthasubramanian S, Padmanabha H, Ravindranadh C, Kenchiah R, Bhatia S, Santhoshkumar R, et al.
J Neurol Sci
. 2024 Dec;
468():123338.
PMID: 39675099
Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for...
4.
Arunachal G, Nimonkar M, Mahadeva P, Sukrutha R, Raghavendra K, Chetan G, et al.
Stem Cell Res
. 2024 Oct;
81:103573.
PMID: 39383605
The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant...
5.
Baskar D, Vengalil S, Polavarapu K, Preethish-Kumar V, Arunachal G, Sukrutha R, et al.
Glob Med Genet
. 2024 Sep;
11(4):297-303.
PMID: 39238562
ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation-contraction of skeletal muscles. Loss-of-function mutations of cause severe combined immunodeficiency, nonprogressive muscle hypotonia,...
6.
Chawla T, Nashi S, Baskar D, Polavarapu K, Vengalil S, Bardhan M, et al.
Neurogenetics
. 2024 Aug;
25(4):435-469.
PMID: 39103709
Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality. We aimed to study the phenotype-genotype spectrum...