Zobrazeno 1 - 3
of 3
pro vyhledávání: '"genetics [Abnormalities, Multiple]"'
Autor:
Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel
Publikováno v:
International Journal of Molecular Sciences
International journal of molecular sciences 22(5), 2311-(2021). doi:10.3390/ijms22052311
International Journal of Molecular Sciences, Vol 22, Iss 2311, p 2311 (2021)
International journal of molecular sciences 22(5), 2311-(2021). doi:10.3390/ijms22052311
International Journal of Molecular Sciences, Vol 22, Iss 2311, p 2311 (2021)
Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and anky
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fa28aed9b4bc7c3c433de629e7ebee62
http://europepmc.org/articles/PMC7956287
http://europepmc.org/articles/PMC7956287
Autor:
Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor
Publikováno v:
The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
Autophagy is the major intracellular degradation route in mammalian cells. Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or perinatal lethality, and conditional models show neurodegeneration. Impaired autophagy ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7
Autor:
Mirna Assoum, Meriem Tazir, Stefan Johansson, Michel Koenig, Per M. Knappskog, Helge Boman, Laurence A. Bindoff, Cecilie Bredrup, Christian A. Vedeler, A. M’zahem, Dorra H'mida-Ben Brahim, Bjørn Ivar Haukanes, Nathalie Drouot, Andrew J. Cole, Thomas Klockgether, Vidar M. Steen, Julian Zimmermann, Torunn Fiskerstrand, Abdelmadjid Hamri
Publikováno v:
The American journal of human genetics 87(3), 410-417 (2010). doi:10.1016/j.ajhg.2010.08.002
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::989ab09ee78415c6b670afaae2e92633
https://europepmc.org/articles/PMC2933347/
https://europepmc.org/articles/PMC2933347/