Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nelson Hieu"'
Autor:
Sylvaine Huc-Brandt, Nelson Hieu, Thibaut Imberdis, Nicolas Cubedo, Michelle Silhol, Patricia L A Leighton, Thomas Domaschke, W Ted Allison, Véronique Perrier, Mireille Rossel
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e113331 (2014)
Prion protein is involved in severe neurodegenerative disorders but its physiological role is still in debate due to an absence of major developmental defects in knockout mice. Previous reports in zebrafish indicate that the two prion genes, PrP1 and
Externí odkaz:
https://doaj.org/article/e2cfb2daf3fc420bbc20ab6098895275
Autor:
Bernard Echenne, Lydie Burglen, Nelson Hieu, Claire Guissart, Charles-Joris Roux, Cecilia Marelli, Agathe Roubertie, François Rivier, Christian P. Hamel, Nicolas Leboucq, Gaël Manes, Guy Lenaers, Pierre Meyer, Cyril Goizet, Rita Horvath, Majida Charif
Publikováno v:
Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2018, 4 (1), pp.e217. ⟨10.1212/NXG.0000000000000217⟩
Neurology Genetics, 2018, 4 (1), pp.e217. ⟨10.1212/NXG.0000000000000217⟩
Neurology: Genetics
Neurology Genetics, American Academy of Neurology, 2018, 4 (1), pp.e217. ⟨10.1212/NXG.0000000000000217⟩
Neurology Genetics, 2018, 4 (1), pp.e217. ⟨10.1212/NXG.0000000000000217⟩
Neurology: Genetics
ObjectiveTo describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel AP4M1 pathogenic mutation.MethodsThe 3 patients from an inbred family who exhibited early-onset developmental delay, tetraparesis, juvenile motor funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd3ad77f49278d778927d467c484482e
https://hal.umontpellier.fr/hal-01797330
https://hal.umontpellier.fr/hal-01797330
