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

This publication has 9 references indexed in Scilit:

• Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia
  Acta Neuropathologica, 2009
• Aberrant expression of sialidase and cancer progression
  Proceedings of the Japan Academy, Series B, 2008
• Down‐regulation of sialidase NEU4 may contribute to invasive properties of human colon cancers
  Cancer Science, 2007
• Genetic variants in epigenetic genes and breast cancer risk
  Carcinogenesis, 2006
• Neu4, a Novel Human Lysosomal Lumen Sialidase, Confers Normal Phenotype to Sialidosis and Galactosialidosis Cells
  Journal of Biological Chemistry, 2004
• Molecular pathology of NEU1 gene in sialidosis
  Human Mutation, 2003
• Reduced sialidase expression in highly metastatic variants of mouse colon adenocarcinoma 26 and retardation of their metastatic ability by sialidase overexpression
  International Journal of Cancer, 2001
• Molecular and structural studies of Japanese patients with sialidosis type 1
  Journal of Human Genetics, 2000
• Activated sialidase activity in transformed lymphocytes by Epstein-Barr (EB) virus of sialidosis type I (cherry-red spot-myoclonus syndrome)
  Journal of the Neurological Sciences, 1995