Works matching DE "SIALIDOSES"

Results: 31

Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.

Published in:

2016

By:

Wenjun Zou;
Xin Wang;
Guohong Tian;
Zou, Wenjun;
Wang, Xin;
Tian, Guohong

Publication type:

journal article

A case of adult type galactosialidosis with involvement of peripheral nerves.

Published in:

Journal of Neurology, 2000, v. 247, n. 9, p. 708, doi. 10.1007/s004150070116

By:

Mochizuki, Atsuko;
Motoyoshi, Yasufumi;
Takeuchi, Megumi;
Sonoo, Masahiro;
Shimizu, Teruo

Publication type:

Article

Progressive myoclonic epilepsy.

Published in:

Neurology India, 2010, v. 58, n. 4, p. 514, doi. 10.4103/0028-3886.68660

By:

Satishchandra, P.;
Sinha, S.

Publication type:

Article

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene.

Published in:

Human Genetics, 2001, v. 109, n. 4, p. 421, doi. 10.1007/s004390100592

By:

Sergi, Consolato;
Penzel, Roland;
Uhl, Johannes;
Zoubaa, Saida;
Dietrich, Heike;
Decker, Nadja;
Rieger, Peter;
Kopitz, Juergen;
Otto, Herwart F.;
Kiessling, Marika;
Cantz, Michael

Publication type:

Article

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

Published in:

Indian Journal of Medical Research, 2012, v. 136, n. 6, p. 1048

By:

Ranganath, Prajnya;
Sharma, Vishakha;
Danda, Sumita;
Nandineni, Madhusudan R.;
Dalal, Ashwin B.

Publication type:

Article

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Published in:

2009

By:

Caciotti, A.;
Di Rocco, M.;
Filocamo, M.;
Grossi, S.;
Traverso, F.;
d'Azzo, A.;
Cavicchi, C.;
Messeri, A.;
Guerrini, R.;
Zammarchi, E.;
Donati, M. A.;
Morrone, Amelia

Publication type:

Letter

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression (Communicated by Georgia Chenevix-Trench).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 32, doi. 10.1002/humu.10278

By:

Susan Pattison;
Michael Pankarican;
C. Anthony Rupar

Publication type:

Article

Molecular pathology of NEU1 gene in sialidosis(Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 343, doi. 10.1002/humu.10268

By:

Volkan Seyrantepe;
Helena Poupetova;
Roseline Froissart;
Marie-Thérèse Zabot;
Irène Maire;
Alexey V. Pshezhetsky

Publication type:

Article

Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle.

Published in:

Animal Science Journal, 2009, v. 80, n. 5, p. 611, doi. 10.1111/j.1740-0929.2009.00678.x

By:

MASOUDI, Ali Akbar;
YAMATO, Osamu;
YONEDA, Kazuhiro;
TSUJI, Takehito;
MIKAMI, Osamu;
KUNIEDA, Tetsuo

Publication type:

Article

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.

Published in:

Neurosciences, 2018, v. 23, n. 1, p. 57, doi. 10.17712/nsj.2018.1.20170328

By:

Gultekin, Murat;
Bayramov, Ruslan;
Karaca, Cagatay;
Acer, Niyazi

Publication type:

Article

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome.

Published in:

European Journal of Neurology, 2009, v. 16, n. 8, p. 912, doi. 10.1111/j.1468-1331.2009.02622.x

By:

Lai, S.-C.;
Chen, R.-S.;
Chou, Y.-H. Wu;
Chang, H.-C.;
Kao, L.-Y.;
Huang, Y.-Z.;
Weng, Y.-H.;
Chen, J.-K.;
Hwu, W.-L.;
Lu, C.-S.

Publication type:

Article

Substrate-reduction therapy with miglustat for glycosphingolipid storage disorders affecting the brain.

Published in:

Expert Review of Endocrinology & Metabolism, 2009, v. 4, n. 3, p. 217, doi. 10.1586/eem.09.8

By:

Lachmann, Robin H.

Publication type:

Article

Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.

Published in:

2010

By:

Uchihara, Toshiki;
Ohashi, Ken-ichi;
Kitagawa, Masanobu;
Kurata, Morito;
Nakamura, Ayako;
Hirokawa, Katsuiku;
Kasuga, Tsutomu;
Kobayashi, Takayoshi

Publication type:

Report

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

Published in:

Journal of Human Genetics, 2000, v. 45, n. 4, p. 241, doi. 10.1007/s100380070034

By:

Naganawa, Y.;
Itoh, K.;
Shimmoto, M.;
Takiguchi, K.;
Doi, H.;
Nishizawa, Y.;
Kobayashi, T.;
Kamei, S.;
Lukong, K. E.;
Pshezhetsky, A. V.;
Sakuraba, H.

Publication type:

Article

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study.

Published in:

European Neurology, 2000, v. 43, n. 2, p. 88, doi. 10.1159/000008141

By:

Palmeri, Silvia;
Villanova, Marcello;
Malandrini, Alessandro;
van Diggelen, Otto P.;
Huijmans, Jean G.M.;
Ceuterick, Chantal;
Rufa, Alessandra;
DeFalco, Danilo;
Ciacci, Giuseppe;
Martin, Jean J.;
Guazzi, Giancarlo

Publication type:

Article

Tip II sialidoz: Bir vaka takdimi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2013, v. 56, n. 4, p. 181

By:

Mustafa Kılıç;
Yıldız, Deniz;
Osman Özdemir;
Mesut Koçak;
Sacit Günbey;
Yaşar Doğan;
Esra Kılıç

Publication type:

Article

Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.

Published in:

EMBO Journal, 1998, v. 17, n. 6, p. 1588, doi. 10.1093/emboj/17.6.1588

By:

van der Spoel, Aarnoud;
Bonten, Erik;
d'Azzo, Alessandra

Publication type:

Article

CITATIONS AND CLINICIANS' NOTES: GENETICS.

Published in:: 2004
Publication type:: Abstract

Histological Studies of Renal Biopsy in a Boy with Nephrosialidosis.

Published in:

Ultrastructural Pathology, 2011, v. 35, n. 4, p. 168, doi. 10.3109/01913123.2011.563340

By:

Chen, Wenfang;
Yang, Shicong;
Shi, Huijuan;
Guan, Weiming;
Dong, Yu;
Wang, Yaqiong;
Wang, Liantang

Publication type:

Article

Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase.

Published in:

Journal of Perinatology, 2005, v. 25, n. 7, p. 491, doi. 10.1038/sj.jp.7211335

By:

Loren, David J.;
Campos, Yvan;
d'Azzo, Alessandra;
Wyble, Lance;
Grange, Dorothy K.;
Gilbert-Barness, Enid;
White, Frances V.;
Hamvas, Aaron

Publication type:

Article

Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTAB) in a French Canadian founder population.

Published in:

Clinical Genetics, 2008, v. 73, n. 3, p. 236, doi. 10.1111/j.1399-0004.2007.00954.x

By:

Plante, M.;
Claveau, S.;
Lepage, P.;
Lavoie, È.-M;
Brunet, S.;
Roquis, D.;
Morin, C.;
Vézina, H.;
Laprise, C.

Publication type:

Article

Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.

Published in:

Tremor & Other Hyperkinetic Movements, 2021, v. 11, p. 1, doi. 10.5334/tohm.652

By:

RIBOLDI, GIULIETTA M.;
MARTONE, JOHN;
RIZZO, JOHN-ROSS;
HUDSON, TODD E.;
RUCKER, JANET C.;
FRUCHT, STEVEN J.

Publication type:

Article

Sialidosis type I with neoplasms in siblings: the first clinical cases.

Published in:

2011

By:

Yagi, Yohsuke;
Machida, Akira;
Toru, Shuta;
Kobayashi, Takayoshi;
Uchihara, Toshiki

Publication type:

Letter

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.

Published in:

Diagnostics (2075-4418), 2018, v. 8, n. 2, p. 29, doi. 10.3390/diagnostics8020029

By:

Khan, Aiza;
Sergi, Consolato

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2715, doi. 10.1093/hmg/9.18.2715

By:

Bonten, Erik. J.;
Arts, Willem F.;
Beck, Michael;
Covanis, A.;
Donati, Maria A.;
Parini, Rossella;
Zammarchi, Enrico;
d’Azzo, Alessandra

Publication type:

Article

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1075, doi. 10.1093/hmg/9.7.1075

By:

Lukong, Kiven E.

Publication type:

Article

Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 1, p. 115, doi. 10.1093/hmg/7.1.115

By:

Igdoura, Suleiman A.;
Gafuik, Christopher;
Mertineit, Carmen;
Saberi, Farzad;
Pshezhetsky, Alex V.;
Potier, Michel;
Trasler, Jacquetta M.;
Gravel, Roy A.

Publication type:

Article

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.

Published in:

2001

By:

Buchholz, Tina;
Molitor, Guy;
Lukong, Kiven E.;
Praun, Manfred;
Genzel-Boroviczény, Orsolya;
Freund, Matthias;
Pshezhetsky, Alexey V.;
Schulze, Andreas;
Buchholz, T;
Molitor, G;
Lukong, K E;
Praun, M;
Genzel-Boroviczény, O;
Freund, M;
Pshezhetsky, A V;
Schulze, A

Publication type:

journal article

Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgery.

Published in:

2001

By:

Tran, Q. H. D.;
Kaufman, I.;
Schricker, T.;
Tran, Q H

Publication type:

journal article

A 5-Day-Old Boy With Hydrops Fetalis.

Published in:

2003

By:

Godra, Anita;
Dae Un Kim, Cyril;
D'Cruz, Cyril

Publication type:

Case Study

Progressive myoclonic epilepsy.

Published in:

Cerebellum, 2004, v. 3, n. 3, p. 156, doi. 10.1080/14734220410035356

By:

Zupanc, Mary L.;
Legros, Benjamin

Publication type:

Article