Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alexandra N. LeFevre"'
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/
Autor:
Steven A. Gunzler, Wen Wang, Wen-Quan Zou, Alan J. Lerner, Neena Singh, Connor Bargar, Jiyan Ma, Rong Xu, Brian S. Appleby, Vahram Haroutunian, Zerui Wang, Shu G. Chen, Xiongwei Zhu, Curtis Tatsuoka, Alexandra N. LeFevre
Publikováno v:
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)
Definitive diagnosis of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB) relies on postmortem finding of disease-associated alpha-synuclein (αSynD) as misfolded protein aggregates in the central nervous system (CNS). The recent develop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e3a1ae68321d8e2a5c6f2e5bb32b54
https://doi.org/10.1186/s40478-021-01175-w
https://doi.org/10.1186/s40478-021-01175-w
