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Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1
Debaleena Mukherjee, Sougata Bhattacharya, Srimant Pattnaik, Subhadeep Gupta, Biman Kanti Ray, Atanu Biswas
J Mov Disord. 2021;14(3):256-258.   Published online April 26, 2021
DOI: https://doi.org/10.14802/jmd.20119
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  • Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
    Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pabl
    Epilepsia Open.2026; 11(2): 577.     CrossRef
  • Sialidosis type 1 in a Turkish family: a case report and review of literatures
    Mustafa Kılıç, Suzan İcil, Abdullah Sezer, Öznur Kaya-Güneş, Selim S. Comoğlu
    Journal of Pediatric Endocrinology and Metabolism.2025; 38(2): 176.     CrossRef
  • Long-standing macular cherry red spot – A case series and review of literature
    Disha Agarwal, Shreyas Temkar, Aahan Shah, Amit Kumar Deb, Hemanth Ramachandar, A Arun Sahi
    Oman Journal of Ophthalmology.2025; 18(3): 359.     CrossRef
  • Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot
    Lulup K. Sahoo, Vidyasagar Kota, Pradeep K. Panigrahi, Srimant Pattnaik, Ajit P. Mishra, Srikanta K. Sahoo
    Neurology.2023; 101(19): 861.     CrossRef

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