Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene-Reference-Cited by-同舟云学术

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Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene

Published:2018-03-26 Issue:13 Volume:90 Page:622-624
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Aravindhan Akilandeswari,Veerapandiyan Aravindhan,Earley Chelsea,Thulasi Venkatraman,Kresge Christina,Kornitzer Jeffrey

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference9 articles.

1. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

2. Neuronal ceroid lipofuscinoses. 2013. Available at: genereviews.org. Accessed June 28, 2017.

3. Gaucher disease. 2015. Available at: genereviews.org. Accessed June 28, 2017.

4. Pathogenesis, emerging therapeutic targets and treatment in sialidosis;d'Azzo;Expert Opin Orphan Drugs,2015

5. Franceschetti S , Canafoglia L . Sialidoses. Epileptic Disord 2016;18:89–93.

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1. Sialidosis type 1 without cherry-red spots: a case report and literature review;BMJ Neurology Open;2024-02

2. Genetics in Epilepsy;Neurologic Clinics;2021-08

3. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature;World Journal of Clinical Cases;2021-01-26

4. Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1;Pediatric Neurology;2020-08

5. Clinical and genetic characteristics of type I sialidosis patients in mainland China;Annals of Clinical and Translational Neurology;2020-05-29

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