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Items: 1 to 20 of 101

1.

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.

2.

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. Review.

PMID:
14517945
3.
4.

Neuraminidase activities in sialidosis and mucolipidosis.

Kuriyama M, Miyatake T, Owada M, Kitagawa T.

J Neurol Sci. 1982 May;54(2):181-7.

PMID:
7097297
5.

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A.

Hum Mol Genet. 2000 Nov 1;9(18):2715-25.

6.

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
7.

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 12;9(7):1075-85.

8.

Sialidosis: a review of human neuraminidase deficiency.

Lowden JA, O'Brien JS.

Am J Hum Genet. 1979 Jan;31(1):1-18. Review. No abstract available.

10.

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.

PMID:
15908988
11.

[Sialidosis due to alpha-2-6 neuraminidase deficiency: a heterogeneous group].

Maroteaux P.

Arch Fr Pediatr. 1978 Oct;35(8):815-8. French. No abstract available.

PMID:
747491
12.

Molecular and structural studies of Japanese patients with sialidosis type 1.

Naganawa Y, Itoh K, Shimmoto M, Takiguchi K, Doi H, Nishizawa Y, Kobayashi T, Kamei S, Lukong KE, Pshezhetsky AV, Sakuraba H.

J Hum Genet. 2000;45(4):241-9.

PMID:
10944856
13.

Sialidosis (mucolipidosis I).

Durand P, Gatti R, Cavalieri S, Borrone C, Tondeur M, Michalski JC, Strecker G.

Helv Paediatr Acta. 1977 Nov;32(4-5):391-400.

PMID:
617984
14.

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.

PMID:
11195014
15.

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 1;116A(4):368-71.

PMID:
12522793
16.

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.

17.

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.

de Geest N, Bonten E, Mann L, de Sousa-Hitzler J, Hahn C, d'Azzo A.

Hum Mol Genet. 2002 Jun 1;11(12):1455-64.

18.

Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.

Uhl J, Penzel R, Sergi C, Kopitz J, Otto HF, Cantz M.

FEBS Lett. 2002 Jun 19;521(1-3):19-23.

19.

Neu4, a novel human lysosomal lumen sialidase, confers normal phenotype to sialidosis and galactosialidosis cells.

Seyrantepe V, Landry K, Trudel S, Hassan JA, Morales CR, Pshezhetsky AV.

J Biol Chem. 2004 Aug 27;279(35):37021-9. Epub 2004 Jun 22.

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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