Artikel dengan mandat akses publik - Giorgio CasariPelajari lebih lanjut
Tidak tersedia di mana pun: 3
Tinjau
Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer
U Orfanelli, E Jachetti, F Chiacchiera, M Grioni, P Brambilla, A Briganti, ...
Oncogene 34 (16), 2094-2102, 2015
Mandat: Government of Italy
Tinjau
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2
L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ...
Human genetics 135, 1117-1125, 2016
Mandat: National Health and Medical Research Council, Australia
Tinjau
Consolidating the role of TDP2 mutations in recessive spinocerebellar ataxia associated with pediatric onset drug resistant epilepsy and intellectual disability (SCAR23)
C Ciaccio, R Castello, S Esposito, M Pinelli, V Nigro, G Casari, ...
The Cerebellum 18, 972-975, 2019
Mandat: Fondazione Telethon, Italy
Tersedia di suatu tempat: 59
Tinjau
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
Mandat: Swiss National Science Foundation, US National Institutes of Health, US …
Tinjau
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
Mandat: US Department of Defense, US National Institutes of Health, Howard Hughes …
Tinjau
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Heart Attack Risk in Puget Sound. Schwartz Stephen M 20 26 Siscovick David S ...
Nature genetics 41 (3), 334-341, 2009
Mandat: US National Institutes of Health, Canadian Institutes of Health Research …
Tinjau
Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths
P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ...
Science immunology 6 (62), eabl4340, 2021
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, National …
Tinjau
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
EA Stahl, D Wegmann, G Trynka, J Gutierrez-Achury, R Do, BF Voight, ...
Nature genetics 44 (5), 483-489, 2012
Mandat: US National Institutes of Health, Canadian Institutes of Health Research
Tinjau
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ...
Nature genetics 44 (9), 1030-1034, 2012
Mandat: US National Institutes of Health, National Institute of Health and Medical …
Tinjau
X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19
T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ...
Science immunology 6 (62), eabl4348, 2021
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, National …
Tinjau
A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection
JL Casanova, HC Su, L Abel, A Aiuti, S Almuhsen, AA Arias, P Bastard, ...
Cell 181 (6), 1194-1199, 2020
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, National …
Tinjau
Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2
L Leo, L Gherardini, V Barone, M De Fusco, D Pietrobon, T Pizzorusso, ...
PLoS genetics 7 (6), e1002129, 2011
Mandat: Fondazione Telethon, Italy
Tinjau
Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia
M Koppen, MD Metodiev, G Casari, EI Rugarli, T Langer
Molecular and cellular biology 27 (2), 758-767, 2007
Mandat: German Research Foundation
Tinjau
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ...
Proceedings of the National Academy of Sciences 119 (21), 2022
Mandat: Fundação de Amparo à Pesquisa do Estado de São Paulo, US National Institutes …
Tinjau
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis
T Daniele, I Hurbain, R Vago, G Casari, G Raposo, C Tacchetti, ...
Current Biology 24 (4), 393-403, 2014
Mandat: Fondazione Telethon, Italy
Tinjau
SARS-CoV-2–related MIS-C: A key to the viral and genetic causes of Kawasaki disease?
V Sancho-Shimizu, P Brodin, A Cobat, CM Biggs, J Toubiana, CL Lucas, ...
Journal of Experimental Medicine 218 (6), 2021
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, National …
Tinjau
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2
C Capuani, M Melone, A Tottene, L Bragina, G Crivellaro, M Santello, ...
EMBO Molecular Medicine 8 (8), 967-986, 2016
Mandat: Fondazione Telethon, Italy, Government of Italy
Tinjau
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
Mandat: National Health and Medical Research Council, Australia, National Institute …
Tinjau
Studying severe long COVID to understand post-infectious disorders beyond COVID-19
P Brodin, G Casari, L Townsend, C O’Farrelly, I Tancevski, J Löffler-Ragg, ...
Nature medicine 28 (5), 879-882, 2022
Mandat: Howard Hughes Medical Institute, Swedish Research Council, UK Medical …
Tinjau
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
Q Zhang, D Matuozzo, J Le Pen, D Lee, L Moens, T Asano, J Bohlen, ...
Journal of Experimental Medicine 219 (8), 2022
Mandat: US National Institutes of Health, Howard Hughes Medical Institute, Research …
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