Aakanksha Anand
Manipala, KA, India
Last Updated: 09/26/2026
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Found 9 publications
Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.
Journal: Journal of inherited metabolic disease
Published: December 05, 2025
Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.
Journal: Nature cardiovascular research
Published: January 21, 2025
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish.
Journal: European journal of human genetics : EJHG
Published: August 30, 2024
Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome: A Rare SARS-CoV-2 Infection-Associated Neurological Complication.
Journal: Indian journal of pediatrics
Published: April 18, 2022
A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness.
Journal: Clinical dysmorphology
Published: September 25, 2021
Expanding the electro-clinical phenotype of CARS2associated neuroregression.
Journal: Epilepsy & behavior reports
Published: May 27, 2021
Use of the International League Against Epilepsy (ILAE) 1989, 2010, and 2017 Classification of Epilepsy in children in a low-resource setting: A hospital-based cross-sectional study.
Journal: Epilepsia open
Published: March 23, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026