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Molecular Genetics & Genomic Medicine|December 23, 2017
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsyThenral S Geetha, Lokesh Lingappa, Abhishek Ravindra Jain, et al.
Brain & Development|June 14, 2015
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South IndiaA Radha Rama Devi, Vakkalagadda A Ramesh, H A Nagarajaram, et al.
Annals of Indian Academy of Neurology|July 31, 2019
An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral CalcinosisLokesh Lingappa, Shoji Ichikawa, Amie K Gray, et al.
Indian Journal of Pathology & Microbiology|February 2, 2019
Juvenile idiopathic inflammatory myopathies: A clinicopathological study with emphasis on muscle histologySundaram Challa, Monalisa Hui, Saumya Jakati, et al.
World Journal of Nuclear Medicine|October 19, 2023
Neurocognitive Profile and <sup>18</sup> F-Fluorodeoxyglucose Positron Emission Tomography Brain Imaging Correlation in Children with Electrical Status Epilepticus during SleepMadhur K Srivastava, Afshan J Shaik, Sireesha Yareeda, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2008
Syndrome of fixed dystonia in adolescents--short term outcome in 4 casesAnirban Majumdar, Jesús López-Casas, Pilar Poo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 11, 2021
The spectrum of acute leukoencephalopathy with restricted diffusion (ALERD): A case series and review of literatureRose Mary Lawrence, Prasanthi Aripirala, Nihaal Reddy, et al.
The American Journal of Tropical Medicine and Hygiene|November 7, 2018
Case Reports: Survival from Rabies: Case Series from IndiaReeta S Mani, Tina Damodar, Divyashree S, et al.
Nephron. Physiology|August 19, 2011
KCNJ10 mutations disrupt function in patients with EAST syndromeBernard Freudenthal, Duvaraka Kulaveerasingam, Lokesh Lingappa, et al.
Molecular Biology Reports|September 15, 2020
Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidismYedukondalu Kollati, Radha Rama Devi Akella, Shaik Mohammad Naushad, et al.
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