Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Autor: Marcello Scala, Saskia B. Wortmann, Namik Kaya, Menno D. Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D. Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka‐Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B. Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G. Karimiani, Yilmaz Yildiz, Ahmet C. Ceylan, Teresa Santiago‐Sim, Amy Dameron, Hui Yang, Mehran B. Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S. Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A. Al‐Muhaizea, Meznah O. Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H. Alwadei, Maha M. AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A. Lines, M. Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P. Ferla, Jenny C. Taylor, Hessa S. Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt‐Mechelke, Andreas Ziegler, Mahmoud Y. Issa, Hasnaa M. Elbendary, Pasquale Striano, Fowzan S. Alkuraya, Maha S. Zaki, Joseph G. Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S. Knaap, Reza Maroofian, Henry Houlden

Publikováno v: Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E, van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap, M S, Maroofian, R & Houlden, H 2022, ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency ', Human Mutation, vol. 43, no. 3, pp. 403-419 . https://doi.org/10.1002/humu.24326
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(3), 403-419. Wiley-Liss Inc.
Human mutation, 43(3), 403-419. Wiley-Liss Inc.
Human Mutation, 43, 403-419
Human Mutation, 43(3), 403-419. Wiley
Hum. Mutat. 43, 403-419 (2022)
Human Mutation, 43, 3, pp. 403-419

Contains fulltext : 283128.pdf (Publisher’s version ) (Open Access) Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an es

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ffced23d066eec204dd4691b5d99de5
https://research.vumc.nl/en/publications/ab0f523f-283b-4ff5-9638-a2480282ed32

Quantitative encapsulation and retention of

Autor: M, Toro-González, A N, Dame, C M, Foster, L J, Millet, J D, Woodward, J V, Rojas, S, Mirzadeh, S M, Davern

Publikováno v: Nanoscale. 12(17)

Targeted alpha therapy (TAT) offers great promise for treating recalcitrant tumors and micrometastatic cancers. One drawback of TAT is the potential damage to normal tissues and organs due to the relocation of decay daughters from the treatment site.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::042607acea3d027d830e709f58a18792
https://pubmed.ncbi.nlm.nih.gov/32324185

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Large scale accelerator production of

Autor: J R, Griswold, D G, Medvedev, J W, Engle, R, Copping, J M, Fitzsimmons, V, Radchenko, J C, Cooley, M E, Fassbender, D L, Denton, K E, Murphy, A C, Owens, E R, Birnbaum, K D, John, F M, Nortier, D W, Stracener, L H, Heilbronn, L F, Mausner, S, Mirzadeh

Publikováno v: Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine. 118

Actinium-225 and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::33b2231bd9157dd9f775280f94c9286a
https://pubmed.ncbi.nlm.nih.gov/27776333

Reservoir Simulation Design Strategy for Next-Generation Multi-level Assisted History Matching

Autor: A. Al-Jasmi, S. Mirzadeh, S. Knabe, I. H. Hossam El Din, Amrita Singh, Marko Maucec, Gustavo Carvajal, Richard L. Chambers

Publikováno v: International Petroleum Technology Conference.

Abstract This paper introduces the bases for the design of next-generation automated workflows to implement advanced assisted history-matching (AHM) techniques. The paper presents procedures for geostatistical modeling, high-end dynamic flow simulati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0969ed391473a57ce18822bf0a73a3e5
https://doi.org/10.2523/17518-ms