Last Updated: 09/26/2026
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Found 32 publications
Lamin B receptor upregulation in metastatic melanoma causes nuclear envelope fragility in confined migration during cancer invasion.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 18, 2026
Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.
Journal: Human molecular genetics
Published: March 17, 2025
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 30, 2024
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Journal: PLoS genetics
Published: March 24, 2022
Fumaric Aciduria: A Rare Cause of Refractory Epilepsy.
Journal: Annals of Indian Academy of Neurology
Published: January 13, 2022
ATRX loss promotes immunosuppressive mechanisms in IDH1 mutant glioma.
Journal: Neuro-oncology
Published: December 24, 2021
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.
Journal: Translational psychiatry
Published: April 28, 2021
Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder.
Journal: Annals of Indian Academy of Neurology
Published: April 30, 2020
Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
Journal: Annals of Indian Academy of Neurology
Published: April 28, 2020
Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder.
Journal: Annals of Indian Academy of Neurology
Published: March 31, 2020
Last Updated: 09/26/2026