Zobrazeno 1 - 10
of 1 071
pro vyhledávání: '"Kolevzon, A"'
Autor:
Antonia San José Cáceres, Emma Wilkinson, Jennifer Cooke, Victoria Baskett, Charlotte Blackmore, Daisy Victoria Crawley, Allison Durkin, Danielle Halpern, María Núñez, Page Siper, Declan G. Murphy, Jennifer Foss-Feig, Alexander Kolevzon, Eva Loth
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-11 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is cur
Externí odkaz:
https://doaj.org/article/f31d6024fcf54dcd95fb362bdf6d1b21
Autor:
Ariela S. Buxbaum Grice, Laura Sloofman, Tess Levy, Hannah Walker, Gauri Ganesh, Miguel Rodriguez de los Santos, Pardis Amini, Joseph D. Buxbaum, Alexander Kolevzon, Ana Kostic, Michael S. Breen
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the ADNP gene. Ketamine
Externí odkaz:
https://doaj.org/article/6e57f1b4a2774ec6954a4b8cb0ff5b70
Autor:
Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava, on behalf of the Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals
Externí odkaz:
https://doaj.org/article/c7f7dd3f29da4a4e89819f90781e8706
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results The Externally Led Patient-Foc
Externí odkaz:
https://doaj.org/article/c76bfb9944134a169b74eae592f6de97
Autor:
Weiyao Yin, Anna Pulakka, Abraham Reichenberg, Alexander Kolevzon, Jonas F. Ludvigsson, Kari Risnes, Marius Lahti-Pulkkinen, Martina Persson, Michael E. Silverman, Ulrika Åden, Eero Kajantie, Sven Sandin
Publikováno v:
The Lancet Regional Health. Europe, Vol 40, Iss , Pp 100902- (2024)
Summary: Background: Roughly more than one in six adults worldwide suffer from psychiatric conditions. Sporadic studies have associated parental psychiatric disorders with autism spectrum disorder in offspring. Comprehensively examining the associati
Externí odkaz:
https://doaj.org/article/41f918bbef1d4ce89c4ff8e2a2c7fb92
Autor:
Yin, Weiyao, Pulakka, Anna, Reichenberg, Abraham, Kolevzon, Alexander, Ludvigsson, Jonas F., Risnes, Kari, Lahti-Pulkkinen, Marius, Persson, Martina, Silverman, Michael E., Åden, Ulrika, Kajantie, Eero, Sandin, Sven
Publikováno v:
In The Lancet Regional Health - Europe May 2024 40
Akademický článek
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Autor:
Ventola, Pamela, Jaeger, Judith, Keary, Christopher J., Kolevzon, Alexander, Adams, Maxwell, Keshavan, Bina, Zinger-Salmun, Celia, Ochoa-Lubinoff, Cesar
Publikováno v:
In European Journal of Paediatric Neurology November 2023 47:35-40
Autor:
Keary, Christopher, Bird, Lynne M., de Wit, Marie-Claire, Hatti, Shivkumar, Heimer, Gali, Heussler, Helen, Kolevzon, Alexander, Mathews, Adera, Ochoa-Lubinoff, Cesar, Tan, Wen-Hann, Yan, Ying, Adams, Maxwell
Publikováno v:
In European Journal of Paediatric Neurology November 2023 47:6-12
Akademický článek
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