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of 3
pro vyhledávání: '"Julia L. Hacker"'
Publikováno v:
Neurobiology of Disease, Vol 146, Iss , Pp 105087- (2020)
Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases. Central to this are leukodystrophies, a group of progressive, neuro
Externí odkaz:
https://doaj.org/article/7ae4d0d8f2044d848d8bcfb8b87d4c88
Autor:
Angela N. Viaene, Aviva Fattal-Valevski, Martin Johansson, Alexandra N. LeFevre, Adeline Vanderver, Judith B. Grinspan, Johanna L. Schmidt, Sunetra Sase, Guy Helman, Brian Harding, Chloe A Stutterd, Ryan J. Taft, Yoel Hirsch, Sarah Woidill, Josef Ekstein, Akshata Almad, Amy Pizzino, Cas Simons, Julia L. Hacker, Ayelet Zerem
Publikováno v:
Pediatr Neurol
Background A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. We provide extended phenotypic classification of this di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24243dc8186f4c232c248039555708ad
https://europepmc.org/articles/PMC8327280/
https://europepmc.org/articles/PMC8327280/
Publikováno v:
Neurobiology of Disease, Vol 146, Iss, Pp 105087-(2020)
Glia cells are often viewed as support cells in the central nervous system, but recent discoveries highlight their importance in physiological functions and in neurological diseases. Central to this are leukodystrophies, a group of progressive, neuro