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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

270 related articles for article (PubMed ID: 19473359)

  • 1. 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]  

  • 2. 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]  

  • 3. First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
    Chen CM; Lai SC; Chen IC; Hsu KC; Lyu RK; Ro LS; Chang HS
    J Neurol Sci; 2006 Aug; 247(1):65-9. PubMed ID: 16712870
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.
    Canafoglia L; Robbiano A; Pareyson D; Panzica F; Nanetti L; Giovagnoli AR; Venerando A; Gellera C; Franceschetti S; Zara F
    Neurology; 2014 Jun; 82(22):2003-6. PubMed ID: 24808020
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Molecular pathology of NEU1 gene in sialidosis.
    Seyrantepe V; Poupetova H; Froissart R; Zabot MT; Maire I; Pshezhetsky AV
    Hum Mutat; 2003 Nov; 22(5):343-52. PubMed ID: 14517945
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    Tremor Other Hyperkinet Mov (N Y); 2021; 11():53. PubMed ID: 34992946
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Neuraminidase activities in sialidosis and mucolipidosis.
    Kuriyama M; Miyatake T; Owada M; Kitagawa T
    J Neurol Sci; 1982 May; 54(2):181-7. PubMed ID: 7097297
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Neurophysiolgical implications in sialidosis type 1: a case report.
    Wang F; Lin L; Hu J; Zhang J; Wang K
    Int J Neurosci; 2022 Jun; 132(6):589-592. PubMed ID: 32988250
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.
    Vieira de Rezende Pinto WB; Sgobbi de Souza PV; Pedroso JL; Barsottini OG
    J Clin Neurosci; 2013 Sep; 20(9):1327-8. PubMed ID: 23870618
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies.
    Swallow DM; Evans L; Stewart G; Thomas PK; Abrams JD
    Ann Hum Genet; 1979 Jul; 43(1):27-35. PubMed ID: 496393
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency.
    Spranger J; Cantz M
    Birth Defects Orig Artic Ser; 1978; 14(6B):105-12. PubMed ID: 728556
    [No Abstract]   [Full Text] [Related]  

  • 19. Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in
    Mütze U; Bürger F; Hoffmann J; Tegetmeyer H; Heichel J; Nickel P; Lemke JR; Syrbe S; Beblo S
    Mol Genet Metab Rep; 2017 Mar; 10():1-4. PubMed ID: 27942463
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.