Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Zidell A"'
Autor:
Steven Ghanny, Aliza Zidell, Helio Pedro, Sjoerd D. Joustra, Monique Losekoot, Jan M. Wit, Javier Aisenberg
Publikováno v:
JCRPE, Vol 13, Iss 4, Pp 461-467 (2021)
Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal develop
Externí odkaz:
https://doaj.org/article/8b1e0cff09ee45c983376646b4e3544f
Autor:
Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas A. Morales Saute, Shalett Mathew, Payam Mohassel, Carsten G. Bönnemann, Eric A. Shoubridge, Thorsten Hornemann
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 18 (2022)
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which catalyzes the first step in the de novo synthesis of sphingolipids
Externí odkaz:
https://doaj.org/article/796026b8c3d74b45851ebb4515257d9e
Autor:
Ghanny, Steven1 ghanny@hackensackmeridian.org, Zidell, Aliza1, Pedro, Helio1, Joustra, Sjoerd D.2, Losekoot, Monique3, Wit, Jan M.2, Aisenberg, Javier1
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. Dec2021, Vol. 13 Issue 4, p461-467. 7p.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Savinainen, A., Wu, L., Bruton, T., Chonkar, A., Cupido, J., Dearling, J., Huang, C., Lee, K., Ma, Z., Mok, H., Nabi, K., Salih, A., Sutton, A., Tavera, L., Wan, M., Wang, Z., Xu, X., Xu, J., Zidell, A., Ricardo, A.
Publikováno v:
In Annals of Oncology September 2024 35 Supplement 2:S755-S755
Autor:
Museer A. Lone, Mari J. Aaltonen, Aliza Zidell, Helio F. Pedro, Jonas Alex Morales Saute, Shalett Mathew, Payam Mohassel, Carsten Bonnemann, Eric A. Shoubridge, Thorsten Hornemann
SummaryAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons. Mutations in the SPTLC1 subunit of serine-palmitoyltransferase (SPT), which catalyzes the first step in the de novo synthesis of sphingolip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::343cbf999fb7c55c0b1eb07a6388b4fa
https://doi.org/10.1101/2022.04.29.490031
https://doi.org/10.1101/2022.04.29.490031
Autor:
Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Morales Saute, Jonas A, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c418b042f955c7f37d16ca78aae2be0d
Publikováno v:
In Journal of Molecular Liquids 2011 160(3):166-179
Autor:
Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A, Nalls, Matthew, Gable, Kenneth, Gupta, Sita D, Foley, A Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R, Pourshafie, Naemeh, Neuhaus, Sarah B, Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E, Fiorillo, Chiara, Ly, Cindy V, Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Hornemann, Thorsten, et al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::68f62cf9be96dc3ba4bcfcca09972ad6
https://doi.org/10.5167/uzh-205257
https://doi.org/10.5167/uzh-205257
Autor:
Florian P. Thomas, Carsten G. Bönnemann, Zoe Piccus, Aliza Zidell, Ana Lucila Moreira, Matthew Nalls, S. Neuhaus, Mark A. Tarnopolsky, Helio Pedro, Fernando Kok, Eric Mittelmann, Kenneth Gable, Lauren Brady, Chamindra G. Konersman, Teresa M. Dunn, Anne M. Connolly, Alessandro Introna, Katherine R. Chao, Robert H. Brown, Tracy Brandt, Sabine Specht, Thorsten Hornemann, Museer A. Lone, Alec R. Nickolls, Volker Straub, Andreas Roos, Ahmet Hoke, Giancarlo Logroscino, Chiara Fiorillo, Claire E. Le Pichon, Chia-Hsueh Lee, Cindy V. Ly, A. Reghan Foley, Dimah Saade, Megan T. Cho, Sita D. Gupta, Ying Hu, Payam Mohassel, Andrea Gangfuß, Heike Kölbel, Christopher Grunseich, Jonas Alex Morales Saute, Sandra Donkervoort, Ana Töpf, Ulrike Schara, Naemeh Pourshafie
Publikováno v:
Nat Med
Nature Medicine
Web of Science
Nature Medicine
Web of Science
Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disease of the lower and upper motor neurons with sporadic or hereditary occurrence. Age of onset, pattern of motor neuron degeneration and disease progression vary widely among
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3193b2001356b95896ddd8445463da1b
https://pubmed.ncbi.nlm.nih.gov/34059824
https://pubmed.ncbi.nlm.nih.gov/34059824