Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.-Reference-Cited by-同舟云学术

Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.

Published:1979-10-01 Issue:10 Volume:42 Page:873-880
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:Journal of Neurology, Neurosurgery & Psychiatry

Author:

Thomas P K,Abrams J D,Swallow D,Stewart G

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Reference20 articles.

1. Investigations on a patient subject to myoclonic seizures after sensory stimulation;Dawson, G.D.;Journal of Neurology, Neurosurgery, and Psychiatry,1947

2. Sialidosis (mucolipidosis I);Durand, P.; Gatti, R.; Cavalieri, S.; Borrone, C.; Tondeur, M.; Michalski, J.-C.; Strecker, G.;Helvetica Paediatrica Acta,1977

3. Electrophysiological studies in two patients with cherry red spot-myoclonus syndrome;Engel, J.; Rapin, I.; Giblin, D.R.;Epilepsia,1977

4. Macular cherry red spot, myoclonic epilepsy and neurovisceral storage disease in a 17-year-old girl;Goldstein, M.L.; Kolodny, E.H.; Gascon, G.G.; Gilles, F.H.;Transactions of the American Neurological Association,1974

5. The relative importance of principal and modifying genes in determining some human disease;Haldane, J.B.S.;Journal of Genetics,1941

Cited by 35 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. NEU1—A Unique Therapeutic Target for Alzheimer’s Disease;Frontiers in Pharmacology;2022-06-29

2. Retinopathy and Vision Loss;Neuro-Ophthalmology;2022

3. A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot;British Journal of Ophthalmology;2020-08-04

4. Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview;Molecular Genetics and Metabolism;2020-02

5. Ocular Manifestations of Inborn Errors of Metabolism;The Eye in Pediatric Systemic Disease;2017