- Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India
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Holla VV, Gurram S, Kamath SD, Arunachal G, Kamble N, Yadav R, Pal PK
- KMID: 2554698
- J Mov Disord.
- 2024 Apr;17(2):220-222.
- doi: 10.14802/jmd.23227
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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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- Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review
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Polavarapu K, Bardhan M, Anjanappa RM, Vengalil S, Preethish-Kumar V, Shingavi L, Chawla T, Nashi S, Mohan D, Arunachal G, Geetha TS, Ramprasad V, Nalini A
- KMID: 2516737
- J Clin Neurol.
- 2021 Jul;17(3):409-418.
- doi: 10.3988/jcn.2021.17.3.409
Background and Purpose Pathogenic variants in the myopalladin gene (MYPN) are known to cause mildly progressive nemaline/cap myopathy. Only nine cases have been reported in the English literature. Methods A detailed... -
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