Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mario Nappi"'
Autor:
Mario, Nappi, Vincenzo, Barrese, Lidia, Carotenuto, Gaetan, Lesca, Audrey, Labalme, Dorothee, Ville, Thomas, Smol, Mélanie, Rama, Anne, Dieux-Coeslier, Clotilde, Rivier-Ringenbach, Maria Virginia, Soldovieri, Paolo, Ambrosino, Ilaria, Mosca, Michael, Pusch, Francesco, Miceli, Maurizio, Taglialatela
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(15)
Developmental and epileptic encephalopathies (DEEs) are neurodevelopmental diseases characterized by refractory epilepsy, distinct electroencephalographic and neuroradiological features, and various degrees of developmental delay. Mutations in KCNQ2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72cb73f55976c58a302bddcabaa3b6df
https://pubmed.ncbi.nlm.nih.gov/35377796
https://pubmed.ncbi.nlm.nih.gov/35377796
Autor:
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme, Dorothee Ville, Thomas Smol, Mélanie Rama, Anne Dieux-Coeslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela
Significance Variants in genes encoding neuronally expressed potassium channel subunits are frequent causes of developmental and epileptic encephalopathies (DEEs). Characterization of their functional consequences is critical to confirm diagnosis, as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0282c0bcf1a2367e46a9e2e0ebe02a01
http://hdl.handle.net/11695/107046
http://hdl.handle.net/11695/107046
Autor:
Renzo Guerrini, Francesco Miceli, Elena Cellini, Mario Nappi, Maurizio Taglialatela, Lucio Parmeggiani, Christina A. Gurnett, Maria Virginia Soldovieri, Davide Mei
Publikováno v:
Epilepsia. 63(1)
A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cb1a8100336ec9841e42c216d761891
https://pubmed.ncbi.nlm.nih.gov/34778950
https://pubmed.ncbi.nlm.nih.gov/34778950
Publikováno v:
International Journal of Mass Spectrometry. 177:91-104
The characteristics of a novel Fourier transform ion trap mass spectrometer capable of broadband nondestructive ion detection are described. Details of the instrumentation, including the custom-built detection circuitry, are provided. An approximate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f2b925cf918a0a4e61d6dc5d421f97f
https://doi.org/10.1016/s1387-3806(98)14038-1
https://doi.org/10.1016/s1387-3806(98)14038-1
Autor:
Vladimir Frankevich, Manish Soni, Jonathan W. Amy, Robert E. Santini, Mario Nappi, R. G. Cooks
Publikováno v:
Analytical Chemistry. 68:3314-3320
Broad-band nondestructive ion detection is achieved in a quadrupole ion trap mass spectrometer by impulsive excitation of a collection of trapped ions of different masses and recording of ion image currents induced on a small detector electrode embed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d07fb58ab3de99a76d7a4c40d412431
https://doi.org/10.1021/ac960577s
https://doi.org/10.1021/ac960577s
Publikováno v:
International Journal of Mass Spectrometry and Ion Processes. :147-163
Simulations and experiments on the motion of collections of ions show that impulsive excitation, applied in the axial direction, forces ions into coherent motion with characteristic secular frequencies. A version of the ion trap simulation program, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0747dc670dd2c267acbc46879042552
https://doi.org/10.1016/0168-1176(95)04209-4
https://doi.org/10.1016/0168-1176(95)04209-4