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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal |
JMD. 2021;14(1):65-69. Published online 2020 October 31 DOI: https://doi.org/10.14802/jmd.20083 |
Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? Cherry-Red Spot Myoclonus Syndrome (Type I Sialidosis) Activated sialidase activity in transformed lymphocytes by Epstein-Barr (EB) virus of sialidosis type I (cherry-red spot-myoclonus syndrome) Multimodality Evoked Potentials and EEG in a Case of Cherry Red Spot-Myoclonus Syndrome and Alpha-Neuraminidase Deficiency (Sialidosis Type 1) Sialidosis Type 1 Peripheral neuropathy in the cherry-red spot?myoclonus syndrome (Sialidosis type I) A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings Adult Onset Familial Cherry-Red Spot Myoclonus |
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