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Results: 1 to 20 of 106

Similar articles for PubMed (Select 23291686)

1.

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.

2.

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. doi: 10.1111/j.1468-1331.2009.02622.x. Epub 2009 Apr 14.

PMID:
19473359
3.

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
4.

[A case of middle-aged onset sialidosis type I].

Sakazume Y, Tanaka M, Isobe I, Tominaga R, Nanba E, Okamoto K.

Rinsho Shinkeigaku. 2004 Aug;44(8):541-4. Japanese.

PMID:
15471091
5.

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 15;247(1):65-9. Epub 2006 May 18.

PMID:
16712870
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. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1. Review.

PMID:
19568825
7.

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
8.

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.

Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H.

J Hum Genet. 2002;47(1):29-37.

PMID:
11829139
9.

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
10.

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.

12.
13.

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
14.

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 18;276(20):17286-90. Epub 2001 Feb 20.

15.

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.

PMID:
12067718
16.

[Sialidosis type I. Two cases in a family].

Chinchurreta-Capote A, Beltrán-Ureña FJ, España-Contreras M.

Arch Soc Esp Oftalmol. 2005 Sep;80(9):537-40. Spanish.

17.

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
18.

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
19.

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Coutinho MF, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata MJ, Alves S.

Clin Genet. 2012 Apr;81(4):379-93. doi: 10.1111/j.1399-0004.2011.01625.x. Epub 2011 Mar 1.

PMID:
21214877
20.

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.

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