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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, …
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. …
Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.
Seol B, Kim YD, Cho YS. Seol B, et al. Int J Mol Sci. 2021 Apr 22;22(9):4386. doi: 10.3390/ijms22094386. Int J Mol Sci. 2021. PMID: 33922276 Free PMC article.
Characterization of NEU1(G227R)- and NEU1(V275A/R347Q)- mutated iNPCs derived from sialidosis-iPSCs (sialidosis-iNPCs) validated that sialidosis-iNPCs faithfully recapitulate key disease-specific phenotypes, including reduced NEU1 activity and impaired lysoso …
Characterization of NEU1(G227R)- and NEU1(V275A/R347Q)- mutated iNPCs derived from sialidosis-iPSCs (sialidosis-iNPCs) validat …
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. ...The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%-100%). Cherry-red …
OBJECTIVE: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. ...The incidence of visual impairment wa …
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 …
AIM: To describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the …
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 …
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 patient …
BACKGROUND: Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese p …
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. Specific features suggesting this condition include myoclonus, ataxia and macular cherry-red spots. However, phenotypic variability exists. ...
Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. Specific features sugges …
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.
The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia and generalized myoclonus. ...We also review available clinical reports of patients with sialidosis type I, with the aim …
The diagnosis is more challenging in the normosomatic type I forms, whose clinical findings at onset include ocular defects, ataxia a …
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.
Neurophysiolgical implications in sialidosis type 1: a case report.
Wang F, Lin L, Hu J, Zhang J, Wang K. Wang F, et al. Int J Neurosci. 2022 Jun;132(6):589-592. doi: 10.1080/00207454.2020.1829615. Epub 2020 Oct 13. Int J Neurosci. 2022. PMID: 32988250
Sialidosis is a rare autosomal recessive hereditary disease caused by NEU1 gene mutations. ...The diagnosis of sialidosis type 1 was then made. This suggests that neurophysiological abnormalities, especially spiky beta brush on EEG, might facilitate the early …
Sialidosis is a rare autosomal recessive hereditary disease caused by NEU1 gene mutations. ...The diagnosis of sialidosis t …
41 results