Unknown

Dataset Information

0

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1.

ABSTRACT:

SUBMITTER: Mukherjee D 

PROVIDER: S-EPMC8490189 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1.

Mukherjee Debaleena D   Bhattacharya Sougata S   Pattnaik Srimant S   Gupta Subhadeep S   Ray Biman Kanti BK   Biswas Atanu A  

Journal of movement disorders 20210426 3

Similar Datasets

Unknown Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.
| S-EPMC8681143 | biostudies-literature
Unknown Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?
| S-EPMC7840231 | biostudies-literature
Unknown A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.
| S-EPMC8142419 | biostudies-literature
Unknown Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
| S-EPMC6047061 | biostudies-literature
Unknown Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.
| S-EPMC9981418 | biostudies-literature
Unknown Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in <i>NEU1</i> gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
| S-EPMC5137178 | biostudies-literature
Unknown Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.
| S-EPMC11572746 | biostudies-literature
Unknown Ataxia as Forme Fruste of Opsoclonus Myoclonus Ataxia Syndrome.
| S-EPMC7313590 | biostudies-literature
Unknown Myoclonus ataxia and refractory coeliac disease.
| S-EPMC4552176 | biostudies-literature
Unknown Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
| S-EPMC7780951 | biostudies-literature