Gautham Arunachal

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado et al. · Nature Communications · 2023 · 28 citations · Full text

Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort

Kiran Polavarapu, Veeramani Preethish‐Kumar, Sekar Deepha et al. · Journal of Neurology · 2019 · 24 citations

Mendelian Disorder, Mutation Pattern, Genetic Disorder +8

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

Sangeetha Yoganathan, Gautham Arunachal, Sniya Sudhakar et al. · Neuropediatrics · 2016 · 22 citations

Brain Development, Neurological Disorder, Genetics +26

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort

Pavalan Selvam, Gautham Arunachal, Sumita Danda et al. · Journal of Clinical Neuromuscular Disease · 2018 · 20 citations

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

Kiran Polavarapu, B. Sunitha, Ana Töpf et al. · Brain · 2023 · 16 citations · Full text

Genetics, Genetic Epidemiology, Pathology +24