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 *

231 related articles for article (PubMed ID: 29693572)

  • 1. Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.
    Khan A; Sergi C
    Diagnostics (Basel); 2018 Apr; 8(2):. PubMed ID: 29693572
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene.
    Hassan M; Alharbi MA; Alhassani RY; Hussain AA; Kamfar RY
    Cureus; 2021 Dec; 13(12):e20389. PubMed ID: 35036219
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
    Pérez-Cabeza MI; Borrás F; Moreno-Medinilla EE; Bardán-Rebollar D; Ferrer-López I; Rodríguez-García E; Jiménez-Machado R; Castro-Vega I; Benito C; Escudero J; Yahyaoui R
    J AAPOS; 2019 Apr; 23(2):102-104. PubMed ID: 30445145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
    Caciotti A; Di Rocco M; Filocamo M; Grossi S; Traverso F; d'Azzo A; Cavicchi C; Messeri A; Guerrini R; Zammarchi E; Donati MA; Morrone A
    J Neurol; 2009 Nov; 256(11):1911-5. PubMed ID: 19568825
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ascites in infantile onset type II Sialidosis.
    Tazi K; Guy-Viterbo V; Gheldof A; Empain A; Paternoster A; De Laet C
    JIMD Rep; 2022 Jul; 63(4):316-321. PubMed ID: 35822090
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Juvenile sialidosis: a rare case and review of the literature.
    Pokharel P; Dawadi A; Baral B; Dhungana S; Baskota A; Poudel DR
    Ann Med Surg (Lond); 2024 Apr; 86(4):2248-2252. PubMed ID: 38576973
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.
    Eyskens M; Bruyndonckx L; Van Kuilenburg ABP; Eyskens F
    JIMD Rep; 2023 Mar; 64(2):156-160. PubMed ID: 36873090
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.
    Han MJ; Annunziata I; Weesner J; Campos Y; Salie M; O'Reilly C; d'Azzo A
    Stem Cell Res; 2020 Jul; 46():101836. PubMed ID: 32485644
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
    d'Azzo A; Machado E; Annunziata I
    Expert Opin Orphan Drugs; 2015; 3(5):491-504. PubMed ID: 26949572
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.
    Arora V; Setia N; Dalal A; Vanaja MC; Gupta D; Razdan T; Phadke SR; Saxena R; Rohtagi A; Verma IC; Puri RD
    Mol Genet Metab Rep; 2020 Mar; 22():100561. PubMed ID: 31956508
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.
    Seol B; Kim YD; Cho YS
    Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33922276
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
    Mosca R; van de Vlekkert D; Campos Y; Fremuth LE; Cadaoas J; Koppaka V; Kakkis E; Tifft C; Toro C; Allievi S; Gellera C; Canafoglia L; Visser G; Annunziata I; d'Azzo A
    J Clin Med; 2020 Mar; 9(3):. PubMed ID: 32143456
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
    Li Y; Liu Y; Wang R; Ao R; Xiang F; Zhang X; Wang X; Yu S
    J Mov Disord; 2024 Jul; 17(3):282-293. PubMed ID: 38600684
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II).
    Prasanna P; Sriram CS; Rodriguez SH; Kohli U
    Cardiol Young; 2021 May; 31(5):862-864. PubMed ID: 33507140
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
    Mohammad AN; Bruno KA; Hines S; Atwal PS
    Mol Genet Metab Rep; 2018 Jun; 15():11-14. PubMed ID: 30023283
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.