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Items: 1 to 20 of 30

1.

Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.

Aravindhan A, Veerapandiyan A, Earley C, Thulasi V, Kresge C, Kornitzer J.

Neurology. 2018 Mar 27;90(13):622-624. doi: 10.1212/WNL.0000000000005209. No abstract available.

PMID:
29581327
2.

Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.

Liu SP, Hsu YH, Huang CY, Ho MC, Cheng YC, Wen CH, Lu HE, Tsai CH, Shyu WC, Hsieh PCH.

Stem Cell Res. 2018 Apr;28:39-43. doi: 10.1016/j.scr.2018.01.024. Epub 2018 Jan 31.

3.

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. doi: 10.1007/s12098-016-2286-9. Epub 2017 Jan 31.

PMID:
28138907
4.

Sialidoses.

Franceschetti S, Canafoglia L.

Epileptic Disord. 2016 Sep 1;18(S2):89-93. Review.

PMID:
27621198
5.

Optical coherence tomography findings in a patient with type 1 sialidosis.

Kersten HM, Roxburgh RH, Danesh-Meyer HV, Hutchinson DO.

J Clin Neurosci. 2016 Sep;31:199-201. doi: 10.1016/j.jocn.2016.02.015. Epub 2016 Apr 1.

PMID:
27052257
6.

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 22;16:30. doi: 10.1186/s12886-016-0201-9.

7.

Cortical damage in the posterior visual pathway in patients with sialidosis type 1.

Lu CS, Ng SH, Lai SC, Kao LY, Liu L, Lin WY, Wu YM, Chen YL, Wang JJ.

Brain Imaging Behav. 2017 Feb;11(1):214-223. doi: 10.1007/s11682-016-9517-6.

PMID:
26843009
8.

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

Kwak JE, Son MY, Son YS, Son MJ, Cho YS.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.

PMID:
25600812
9.

Sialidosis type I: ophthalmological findings.

Sobral I, Cachulo Mda L, Figueira J, Silva R.

BMJ Case Rep. 2014 Oct 16;2014. pii: bcr2014205871. doi: 10.1136/bcr-2014-205871.

10.

NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.

Lee YJ, Son SK, Park JH, Song JS, Cheon CK.

Pediatr Neonatol. 2015 Feb;56(1):68-9. doi: 10.1016/j.pedneo.2014.05.004. Epub 2014 Sep 12. No abstract available.

11.

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 Aug 25;9(8):e104229. doi: 10.1371/journal.pone.0104229. eCollection 2014.

12.

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 3;82(22):2003-6. doi: 10.1212/WNL.0000000000000482. Epub 2014 May 7. Review.

PMID:
24808020
13.

Lysosomal multienzyme complex: pros and cons of working together.

Bonten EJ, Annunziata I, d'Azzo A.

Cell Mol Life Sci. 2014 Jun;71(11):2017-32. doi: 10.1007/s00018-013-1538-3. Epub 2013 Dec 15. Review.

14.

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. doi: 10.1016/j.jocn.2012.12.014. Epub 2013 Jul 16.

PMID:
23870618
15.

Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.

Rosenberg R, Halimi E, Mention-Mulliez K, Cuisset JM, Holder M, Defoort-Dhellemmes S.

J Pediatr Ophthalmol Strabismus. 2013 Jul 2;50 Online:e33-6. doi: 10.3928/01913913-20130625-02.

PMID:
23819954
16.

Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II.

Eminoglu TF, Ozkan M, Igdoura S, Dursun A, Zenciro─člu A.

J Pediatr Endocrinol Metab. 2013;26(7-8):767-9. doi: 10.1515/jpem-2012-0329.

PMID:
23612593
17.

Positive regulation of insulin signaling by neuraminidase 1.

Dridi L, Seyrantepe V, Fougerat A, Pan X, Bonneil E, Thibault P, Moreau A, Mitchell GA, Heveker N, Cairo CW, Issad T, Hinek A, Pshezhetsky AV.

Diabetes. 2013 Jul;62(7):2338-46. doi: 10.2337/db12-1825. Epub 2013 Mar 21.

18.

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.

Lee BH, Kim YM, Kim JH, Kim GH, Lee BS, Kim CJ, Yoo HJ, Yoo HW.

Brain Dev. 2014 Feb;36(2):171-5. doi: 10.1016/j.braindev.2013.01.012. Epub 2013 Feb 19.

PMID:
23433491
19.

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.

Ranganath P, Sharma V, Danda S, Nandineni MR, Dalal AB.

Indian J Med Res. 2012 Dec;136(6):1048-50. No abstract available.

20.

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. Epub 2013 Jan 1.

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