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Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysosto …
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. …
Diagnostics and Therapy of Human Diseases - Focus on Sialidases.
Karagodin VP, Sukhorukov VN, Myasoedova VA, Grechko AV, Orekhov AN. Karagodin VP, et al. Curr Pharm Des. 2018;24(24):2870-2875. doi: 10.2174/1381612824666180910125051. Curr Pharm Des. 2018. PMID: 30198428 Review.
In vitro studies suggest that some sialidase inhibitors might be useful therapeutics for treating sialidosis, cancer, infections, immune diseases, atherosclerosis and other pathologies. ...
In vitro studies suggest that some sialidase inhibitors might be useful therapeutics for treating sialidosis, cancer, infections, imm …
Clinical and genetic characteristics of type I sialidosis patients in mainland China.
Lv RJ, Li TR, Zhang YD, Shao XQ, Wang Q, Jin LR. Lv RJ, et al. Ann Clin Transl Neurol. 2020 Jun;7(6):911-923. doi: 10.1002/acn3.51058. Epub 2020 May 29. Ann Clin Transl Neurol. 2020. PMID: 32472645 Free PMC article.
OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. ...
OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. ...
An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca(2+) dynamics.
Odaka H, Numakawa T, Soga M, Kido J, Matsumoto S, Kajihara R, Okumiya T, Tani N, Tanoue Y, Fukuda T, Furuya H, Inoue T, Era T. Odaka H, et al. Neurobiol Dis. 2021 May;152:105279. doi: 10.1016/j.nbd.2021.105279. Epub 2021 Jan 29. Neurobiol Dis. 2021. PMID: 33516873 Free article.
Sialidosis NPCs and neurons mimicked the disease-like phenotypes including reduced neuraminidase activity, accumulation of sialyl-oligoconjugates and lysosomal expansions. ...Our present study provides new insights into both the neuronal pathophysiology and potential thera
Sialidosis NPCs and neurons mimicked the disease-like phenotypes including reduced neuraminidase activity, accumulation of sialyl-oli
Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.
Riboldi GM, Martone J, Rizzo JR, Hudson TE, Rucker JC, Frucht SJ. Riboldi GM, et al. Tremor Other Hyperkinet Mov (N Y). 2021 Dec 9;11:53. doi: 10.5334/tohm.652. eCollection 2021. Tremor Other Hyperkinet Mov (N Y). 2021. PMID: 34992946 Free PMC article.
Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. ...
Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. ...
Sialidosis Type 1 Without Cherry-Red Spot.
Bou Ghannam AS, Mehner LC, Pelak VS. Bou Ghannam AS, et al. J Neuroophthalmol. 2019 Sep;39(3):388-390. doi: 10.1097/WNO.0000000000000773. J Neuroophthalmol. 2019. PMID: 31107347 No abstract available.
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X, Wu S, Wang M, Li H, Huang Y, Sui R. Han X, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1316. doi: 10.1002/mgg3.1316. Epub 2020 May 26. Mol Genet Genomic Med. 2020. PMID: 32453490 Free PMC article.
BACKGROUND: Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sial
BACKGROUND: Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient …
A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.
Daich Varela M, Zein WM, Toro C, Groden C, Johnston J, Huryn LA, d'Azzo A, Tifft CJ, FitzGibbon EJ. Daich Varela M, et al. Br J Ophthalmol. 2021 Jun;105(6):838-843. doi: 10.1136/bjophthalmol-2020-316826. Epub 2020 Aug 4. Br J Ophthalmol. 2021. PMID: 32753397 Free PMC article.
AIM: To describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated 'macular cherry …
AIM: To describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysoso …
Deep brain stimulation for Myoclonus in sialidosis I.
Liu JY, Ouyang Y, Lv H, Liu Y, Yu HM, Hu JQ, Chu DW, Li ZP, Ou SW, Wang J. Liu JY, et al. Parkinsonism Relat Disord. 2023 Jun;111:105434. doi: 10.1016/j.parkreldis.2023.105434. Epub 2023 May 6. Parkinsonism Relat Disord. 2023. PMID: 37167833 No abstract available.
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A. Caciotti A, et al. Mol Genet Metab. 2020 Feb;129(2):47-58. doi: 10.1016/j.ymgme.2019.09.005. Epub 2019 Oct 31. Mol Genet Metab. 2020. PMID: 31711734 Review.
Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypical LSD inherited as an autosomal recessive trait and caused by mutations in the NEU1 gene that result in a deficiency of alpha-N-acetyl neur …
Their incidence, however, has probably been underestimated owing to their complex clinical manifestations. Sialidosis is a prototypic …
42 results