- Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum
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Gurram S, Holla VV, Kumari R, Dhar D, Kamble N, Yadav R, Muthusamy B, Pal PK
- KMID: 2545935
- J Mov Disord.
- 2023 Sep;16(3):343-346.
- doi: 10.14802/jmd.23098
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- Clinico-Genetic Profiles of Seven Patients With PINK1-Related Parkinson’s Disease: A Case Series From a Tertiary Care Centre in India and a Review of the Literature
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Gunasekaran A, Holla VV, Phulpagar P, Kamath SD, Kamble N, Yadav R, Muthusamy B, Pal PK
- KMID: 2560199
- J Mov Disord.
- 2024 Oct;17(4):436-441.
- doi: 10.14802/jmd.24157
Objective Recessive variants in the PINK1 gene are known causes of early-onset Parkinson’s disease (EOPD). To describe the clinical features and genetic profiles of patients with PINK1-related Parkinson’s disease... -
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- Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix–Saguenay: Insights From a Case Series of Seven Patients–A Single-Center Study and Review of an Indian Cohort
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Raval MA, Holla VV, Kamble N, Arunachal G, Muthusamy B, Saini J, Yadav R, Pal PK
- KMID: 2560198
- J Mov Disord.
- 2024 Oct;17(4):430-435.
- doi: 10.14802/jmd.24154
Objective In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS). Methods We performed a retrospective chart review of... -
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- KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
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Dhar D, Holla VV, Kumari R, Sriram N, Saini J, Yadav R, Pandey A, Kamble N, Muthusamy B, Pal PK
- KMID: 2545925
- J Mov Disord.
- 2023 Sep;16(3):285-294.
- doi: 10.14802/jmd.23035
ObjectiveaaMutations in the KMT2B gene have been identified in patients previously diagnosed with idiopathic dystonia. Literature on KMT2B-related dystonia is sparse in the Indian and Asian populations. MethodsaaWe report seven patients... -
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