Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Katherine H. L. Ching"'
Autor:
Barbara Levinson, Susan J. Hayflick, Shawn K. Westaway, Katherine H. L. Ching, Jane Gitschier, Bing Zhou, Monique A. Johnson
Publikováno v:
New England Journal of Medicine. 348:33-40
Background Hallervorden–Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dace2ede18a3f665d14cb8ae461e61d6
https://doi.org/10.1056/nejmoa020817
https://doi.org/10.1056/nejmoa020817
Publikováno v:
Molecular Microbiology. 36:749-761
Salmonella enterica is a bacterial pathogen of humans that can proliferate within epithelial cells as well as professional phagocytes of the immune system. This ability requires an S. enterica specific locus termed Salmonella pathogenicity island 2 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b37f7844771feb7a84f12c2a1612fdb
https://doi.org/10.1046/j.1365-2958.2000.01902.x
https://doi.org/10.1046/j.1365-2958.2000.01902.x
Autor:
Shawn K, Westaway, Katherine H L, Ching, Barbara, Levinson, Jane, Gitschier, Susan J, Hayflick
Publikováno v:
Human genetics. 119(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::46aafbb2844772c88c6de94952e82c78
https://pubmed.ncbi.nlm.nih.gov/17128480
https://pubmed.ncbi.nlm.nih.gov/17128480
Autor:
Susan J. Hayflick, Monique A. Johnson, Katherine H. L. Ching, Yien Ming Kuo, Susan M. Parker, Shawn K. Westaway, Jane Gitschier
Publikováno v:
Annals of the New York Academy of Sciences. 1012
Mutations in the pantothenate kinase 2 gene (PANK2) lead to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). This neurodegenerative disorder is characterized by iron accumulation in the basal ganglia. Pan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c473aa54e0193b3fd8171775edf88a0
https://pubmed.ncbi.nlm.nih.gov/15105273
https://pubmed.ncbi.nlm.nih.gov/15105273
Publikováno v:
Neurology. 58:1673-1674
HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome with many clinical similarities to pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). De
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0b89e146acfa4336ebc39b89a0b94f4
https://doi.org/10.1212/wnl.58.11.1673
https://doi.org/10.1212/wnl.58.11.1673