These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
147 related articles for article (PubMed ID: 39350194)
1. Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I. Du YC; Ma LH; Li QF; Ma Y; Dong Y; Wu ZY Orphanet J Rare Dis; 2024 Sep; 19(1):362. PubMed ID: 39350194 [TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic characteristics of type I sialidosis patients in mainland China. Lv RJ; Li TR; Zhang YD; Shao XQ; Wang Q; Jin LR Ann Clin Transl Neurol; 2020 Jun; 7(6):911-923. PubMed ID: 32472645 [TBL] [Abstract][Full Text] [Related]
3. Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. Fan SP; Lee NC; Lin CH J Formos Med Assoc; 2020 Jan; 119(1 Pt 3):406-412. PubMed ID: 31371146 [TBL] [Abstract][Full Text] [Related]
4. Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1. Han X; Wu S; Wang M; Li H; Huang Y; Sui R Mol Genet Genomic Med; 2020 Aug; 8(8):e1316. PubMed ID: 32453490 [TBL] [Abstract][Full Text] [Related]
5. 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 Mol Genet Metab; 2020 Feb; 129(2):47-58. PubMed ID: 31711734 [TBL] [Abstract][Full Text] [Related]
6. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome. Lai SC; Chen RS; Wu Chou YH; Chang HC; Kao LY; Huang YZ; Weng YH; Chen JK; Hwu WL; Lu CS Eur J Neurol; 2009 Aug; 16(8):912-9. PubMed ID: 19473359 [TBL] [Abstract][Full Text] [Related]
7. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene. Gowda VK; Srinivasan VM; Benakappa N; Benakappa A Indian J Pediatr; 2017 May; 84(5):403-404. PubMed ID: 28138907 [TBL] [Abstract][Full Text] [Related]
8. Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review. Ahn JH; Kim AR; Lee C; Kim NKD; Kim NS; Park WY; Kim M; Youn J; Cho JW; Kim JS Cerebellum; 2019 Jun; 18(3):659-664. PubMed ID: 30635863 [TBL] [Abstract][Full Text] [Related]
9. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. Cao LX; Liu Y; Song ZJ; Zhang BR; Long WY; Zhao GH World J Clin Cases; 2021 Jan; 9(3):623-631. PubMed ID: 33553400 [TBL] [Abstract][Full Text] [Related]
10. Clinical variability of type II sialidosis by C808T mutation. Rodríguez Criado G; Pshezhetsky AV; Rodríguez Becerra A; Gómez de Terreros I Am J Med Genet A; 2003 Feb; 116A(4):368-71. PubMed ID: 12522793 [TBL] [Abstract][Full Text] [Related]
11. Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with Wang PS; Yang XX; Wei Q; Lv YT; Wu ZY; Li HF Ann Med; 2024 Dec; 56(1):2407522. PubMed ID: 39351695 [TBL] [Abstract][Full Text] [Related]
12. [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]. Qiu ZQ; Lu CX; Wang W; Qiu JJ; Wei M Zhonghua Er Ke Za Zhi; 2011 Mar; 49(3):203-8. PubMed ID: 21575371 [TBL] [Abstract][Full Text] [Related]
13. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Pattison S; Pankarican M; Rupar CA; Graham FL; Igdoura SA Hum Mutat; 2004 Jan; 23(1):32-9. PubMed ID: 14695530 [TBL] [Abstract][Full Text] [Related]
14. Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene. Sekijima Y; Nakamura K; Kishida D; Narita A; Adachi K; Ohno K; Nanba E; Ikeda S Intern Med; 2013; 52(1):119-24. PubMed ID: 23291686 [TBL] [Abstract][Full Text] [Related]
15. Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone. Li X; Zhang Q Ophthalmic Genet; 2020 Jun; 41(3):279-283. PubMed ID: 32270733 [TBL] [Abstract][Full Text] [Related]
17. Identification of a founder mutation for Pendred syndrome in families from northwest Iran. Mohseni M; Honarpour A; Mozafari R; Davarnia B; Najmabadi H; Kahrizi K Int J Pediatr Otorhinolaryngol; 2014 Nov; 78(11):1828-32. PubMed ID: 25239229 [TBL] [Abstract][Full Text] [Related]
18. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. Lukong KE; Elsliger MA; Chang Y; Richard C; Thomas G; Carey W; Tylki-Szymanska A; Czartoryska B; Buchholz T; Criado GR; Palmeri S; Pshezhetsky AV Hum Mol Genet; 2000 Apr; 9(7):1075-85. PubMed ID: 10767332 [TBL] [Abstract][Full Text] [Related]
19. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of Gui B; Song Y; Su Z; Luo FH; Chen L; Wang X; Chen R; Yang Y; Wang J; Zhao X; Fan L; Liu X; Wang Y; Chen S; Gong C J Med Genet; 2019 Oct; 56(10):685-692. PubMed ID: 31186340 [TBL] [Abstract][Full Text] [Related]
20. In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. Bonardi D; Ravasio V; Borsani G; d'Azzo A; Bresciani R; Monti E; Giacopuzzi E PLoS One; 2014; 9(8):e104229. PubMed ID: 25153125 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]