106 related articles for article (PubMed ID: 15471091)
1. [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. PubMed ID: 15471091
[TBL] [Abstract][Full Text] [Related]
2. [Neuroradiological findings on cerebral blood flow and metabolism of a case of adult onset sialidosis].
Nishiyama Y; Sakamoto S; Katayama Y; Mishina M; Terashi A
Rinsho Shinkeigaku; 1997 Nov; 37(11):982-6. PubMed ID: 9503967
[TBL] [Abstract][Full Text] [Related]
3. [Two siblings with adult-onset sialidosis type I (cherry-red spot-myoclonus syndrome)].
Tana T; Komine Y; Kanzato N; Kawazoe N; Fukiyama K
Rinsho Shinkeigaku; 1995 Jul; 35(7):803-5. PubMed ID: 8777807
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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. PubMed ID: 10944856
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 11829139
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 23291686
[TBL] [Abstract][Full Text] [Related]
8. 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; 247(1):65-9. PubMed ID: 16712870
[TBL] [Abstract][Full Text] [Related]
9. [18F]Fluoro-2-deoxy-D-glucose positron emission tomography detects gastric carcinoma in an early stage in an asymptomatic E-cadherin mutation carrier.
van Kouwen MC; Drenth JP; Oyen WJ; de Bruin JH; Ligtenberg MJ; Bonenkamp JJ; van Krieken JH; Nagengast FM
Clin Cancer Res; 2004 Oct; 10(19):6456-9. PubMed ID: 15475432
[TBL] [Abstract][Full Text] [Related]
10. Sialidosis type I (cherry red spot-myoclonus syndrome).
Ganguly S; Gabani RU; Chakraborty S; Ganguly SB
J Indian Med Assoc; 2004 Mar; 102(3):174-5. PubMed ID: 15473282
[TBL] [Abstract][Full Text] [Related]
11. [A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG].
Nagata M; Takiyama Y; Shimazaki H; Nakano I; Miyajima H
No To Shinkei; 2004 Oct; 56(10):885-9. PubMed ID: 15609677
[TBL] [Abstract][Full Text] [Related]
12. Utility of 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography and positron emission tomography/computed tomography imaging in the preoperative staging of head and neck squamous cell carcinoma.
Roh JL; Yeo NK; Kim JS; Lee JH; Cho KJ; Choi SH; Nam SY; Kim SY
Oral Oncol; 2007 Oct; 43(9):887-93. PubMed ID: 17207656
[TBL] [Abstract][Full Text] [Related]
13. [A 60-year-old man with intention tremor as an initial symptom followed by cerebellar ataxia, peripheral neuropathy and dementia].
Machida Y; Lijima M; Nakamura K; Ota S; Hattori N; Mizuno Y
No To Shinkei; 2005 Aug; 57(8):710-9. PubMed ID: 16146216
[TBL] [Abstract][Full Text] [Related]
14. Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.
Cao LX; Liu Y; Song ZJ; Zhang BR; Long WY; Zhao GH
World J Clin Cases; 2021 Jan; 9(3):623-631. PubMed ID: 33553400
[TBL] [Abstract][Full Text] [Related]
15. [A case of brain metastasis from gastric cancer involving bilateral middle cerebellar peduncles].
Mizumatsu S; Nishimura T; Sakai K; Goto M; Sugatani H; Higashi T
No Shinkei Geka; 2006 Sep; 34(9):955-60. PubMed ID: 16984031
[TBL] [Abstract][Full Text] [Related]
16. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies.
Swallow DM; Evans L; Stewart G; Thomas PK; Abrams JD
Ann Hum Genet; 1979 Jul; 43(1):27-35. PubMed ID: 496393
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 23870618
[TBL] [Abstract][Full Text] [Related]
18. [Mucolipidosis: clinical and genetic aspects].
Kolodny EH
Rev Neurol; 1998 Aug; 27(156):337-41. PubMed ID: 9736966
[TBL] [Abstract][Full Text] [Related]
19. [A new observation of cherry-red spot myoclonus syndrome (author's transl)].
Martin JJ
Acta Neurol Belg; 1980; 80(1):30-6. PubMed ID: 7361541
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]