Publications by authors named "Gautham A Udupi"

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Expanding the genetic spectrum of corticobasal syndrome: novel p.M394L variant from a South Asian cohort.
Faheem Arshad, Gautham Arunachal Udupi, Akhitha Hk, Aparna Somaraj, Darshini Jeevendra Kumar

Neurocase· October 2025

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Reporting a Novel Gene Mutation in Glycogen Storage Disease Type VII (Tarui Disease).
Manisha Gupta, Thuppanattumadam A Sangeeth, Ramya Sukrutha, Gautham A Udupi, Rashmi S Kumar

Ann Indian Acad Neurol· January 2025

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Genetic insights into male autism spectrum disorder in a small cohort of Indian simplex families: findings from whole exome sequencing.
Srividhya Durbagula, Snijesh Valiya Parambath, Ashitha Siddappa Niranjana Murthy, Meghana Rameshraju K, Chetan Ghati Kasturirangan, Gautham Arunachal Udupi

Gen Psychiatr· November 2024

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Melanin Incontinence, Infantile Stroke, and Negative Genetics in a Case of Incontinentia Pigmenti.
Sangeeth Thuppanattumadam Ananthasubramanian, Seemikeri Chinmayi Chanrakant, Tumulu Seetam Kumar, Rangasamy Thiruvengadam Rajeswarie, Gautham Arunachal Udupi

Ann Indian Acad Neurol· September 2024

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Audio-vestibular Findings in a Patient with Pelizaeus- Merzbacher Disease.
Pradeep Yuvaraj, Suman Narayana Swamy, Kallahalli Chethan, Ragavendra Kenchaiah, Gautham Arunachal Udupi

J Int Adv Otol· July 2024

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Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report.
Chithra Uppinkudru, Rakshathi Basavaraju, Gautham Arunachal Udupi, Urvakhsh Meherwan Mehta

Indian J Psychol Med· May 2024

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Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy.
A R Nagaraj, Guduru Shravanthi, Tumulu Seetam Kumar, Raghavendra Kenchiah, Rohan Mahale, Gautham Arunachal Udupi

Ann Indian Acad Neurol· February 2024

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Novel Pathogenic Missense -Variant Associated With Cognitive Impairment.
Faheem Arshad, Ashwin Prasad, Aparna Somaraj, Gautham Arunachal Udupi, Subasree Ramakrishnan

Dement Neurocogn Disord· January 2024

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Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
Kruti Varshney, Sanjeeva Ghanti Narayanachar, Katta M Girisha, Gandham SriLakshmi Bhavani, Dhanyalakshmi Narayanan, Gautham Arunachal Udupi

J Med Genet· February 2023

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Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of Gene.
Maya Dattatraya Bhat, Netravathi Manjunath, Renu Kumari, Mohammed Faruq, Pramod Kumar Pal, Gautham Arunachal Udupi

J Pediatr Genet· December 2022

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Atypical idiopathic NBIA (neurodegeneration with brain iron accumulation) associated with treatment-resistant bipolar mania responding to clozapine.
Rahul Patwal, Naveen Manohar Pai, Sundarnag Ganjekar, Gautham Arunachal Udupi, Pooja M

Bipolar Disord· December 2022

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Lichtenstein-Knorr Syndrome: A Rare Case of Ataxia with Sensorineural Hearing Loss.
Nagabushan Hesarur, Mainak Bardhan, AshokVardhanReddy Taallapalli, Saraswati Nashi, Gautham A Udupi

Ann Indian Acad Neurol· October 2022

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CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!
Neeharika Sriram, Hansashree Padmanabha, Sadanandavalli R Chandra, Rohan Mahale, Bevinahalli Nandeesh, Gautham A Udupi

Ann Indian Acad Neurol· November 2021

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