- Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
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Neeraja K, Holla VV, Prasad S, Surisetti BK, Rakesh K, Kamble N, Yadav R, Pal PK
- KMID: 2511490
- J Mov Disord.
- 2021 Jan;14(1):65-69.
- doi: 10.14802/jmd.20083
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red... -
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- Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
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Holla VV, Neeraja K, Stezin A, Prasad S, Surisetti BK, Netravathi M, Kamble N, Yadav R, Pal PK
- KMID: 2530222
- J Mov Disord.
- 2022 May;15(2):156-161.
- doi: 10.14802/jmd.21146
Objective With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES)... -
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- Clinical and Imaging Profile of Patients with Joubert Syndrome
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Surisetti BK, Holla VV, Prasad S, Neeraja K, Kamble N, Yadav R, Pal PK
- KMID: 2547821
- J Mov Disord.
- 2021 Sep;14(3):231-235.
- doi: 10.14802/jmd.21066
Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features... -
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- Deep Brain Stimulation Battery Exhaustion during the COVID-19 Pandemic: Crisis within a Crisis
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Holla VV, Neeraja K, Surisetti BK, Prasad S, Kamble N, Srinivas D, Yadav R, Pal PK
- KMID: 2506750
- J Mov Disord.
- 2020 Sep;13(3):218-222.
- doi: 10.14802/jmd.20073
Objective The novel coronavirus disease (COVID-19) pandemic and public health measures to control it have resulted in unique challenges in the management of patients with deep brain stimulation (DBS). We... -
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