Gautham Arunachal
National Institute of Mental Health(JP)National Institute of Mental Health(CZ)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Mitochondrial Function and Pathology, Cellular transport and secretion
Most-Cited Works
- → TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease(2023)28 cited
- → 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(2019)24 cited
- → Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification(2016)22 cited
- → Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort(2018)20 cited
- → Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort(2023)16 cited
- → Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations(2020)15 cited
- → A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients(2021)15 cited
- → Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome(2021)14 cited
- → Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C(2022)13 cited
- → Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes – A recognizable clinical phenotype(2021)12 cited