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 *

171 related articles for article (PubMed ID: 23870618)

  • 1. 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]  

  • 2. 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]  

  • 3. Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.
    Zou W; Wang X; Tian G
    BMC Ophthalmol; 2016 Mar; 16():30. PubMed ID: 27004518
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 10. 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
    Br J Ophthalmol; 2021 Jun; 105(6):838-843. PubMed ID: 32753397
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Macular cherry-red spot and corneal haze in sialidosis (mucolipidosis type 1).
    Goldberg MF
    Arch Ophthalmol; 2008 Dec; 126(12):1778; author reply 1778. PubMed ID: 19064869
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
    Loren DJ; Campos Y; d'Azzo A; Wyble L; Grange DK; Gilbert-Barness E; White FV; Hamvas A
    J Perinatol; 2005 Jul; 25(7):491-4. PubMed ID: 15908988
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations.
    Till JS; Roach ES; Burton BK
    J Clin Neuroophthalmol; 1987 Mar; 7(1):40-4. PubMed ID: 2952680
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Cherry red spot in sialidosis (mucolipidosis type I).
    Heroman JW; Rychwalski P; Barr CC
    Arch Ophthalmol; 2008 Feb; 126(2):270-1. PubMed ID: 18268224
    [No Abstract]   [Full Text] [Related]  

  • 19. Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.
    Buchholz T; Molitor G; Lukong KE; Praun M; Genzel-Boroviczény O; Freund M; Pshezhetsky AV; Schulze A
    Eur J Pediatr; 2001 Jan; 160(1):26-30. PubMed ID: 11195014
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
    Lukong KE; Landry K; Elsliger MA; Chang Y; Lefrancois S; Morales CR; Pshezhetsky AV
    J Biol Chem; 2001 May; 276(20):17286-90. PubMed ID: 11279074
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.