Zobrazeno 1 - 10
of 727
pro vyhledávání: '"GRIN2A"'
Publikováno v:
Diagnostic Pathology, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Background Spitz tumors are relatively uncommon melanocytic lesions, typically affecting a relatively younger population but can be encountered at any age. They are characterized by a proliferation of melanocytes with epithelioid and/or spin
Externí odkaz:
https://doaj.org/article/52deca62e0d44a2da92a01992b14a73f
Akademický článek
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Autor:
Piero Pavone, Xena Giada Pappalardo, Naira Mustafa, Sung Yoon Cho, Dong Kyu Jin, Gemma Incorpora, Raffaele Falsaperla, Simona Domenica Marino, Giovanni Corsello, Enrico Parano, Martino Ruggieri
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-11 (2022)
Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutat
Externí odkaz:
https://doaj.org/article/860c8ce952474fad8d239f8abc246a64
Autor:
Eleanor Blair Towers, Madison Kilgore, Anousheh Bakhti-Suroosh, Lasyapriya Pidaparthi, Ivy L. Williams, Jean M. Abel, Wendy J. Lynch
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 16 (2023)
IntroductionWomen have a shorter course from initial cocaine use to meeting the criteria for cocaine use disorder as compared to men. Preclinical findings similarly indicate that females develop key features of an addiction-like phenotype faster than
Externí odkaz:
https://doaj.org/article/69d26b09bfc84539ab12c1dfee2c2fa4
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Ioana Gheța, Raluca Ioana Teleanu, Eugenia Roza, Evelina Carapancea, Oana Vladacenco, Daniel Mihai Teleanu
Publikováno v:
Neurology International, Vol 13, Iss 2, Pp 184-189 (2021)
Glutamate, the major excitatory neurotransmitter, plays a ubiquitous role in most aspects of normal brain functioning. Its indispensable position is paradoxically doubled by a high excitotoxic potential following disruption of its dynamic equilibrium
Externí odkaz:
https://doaj.org/article/a9775993e0f946298d5286b78b5de2d9
Publikováno v:
Srpski Arhiv za Celokupno Lekarstvo, Vol 149, Iss 7-8, Pp 485-488 (2021)
Introduction. Infantile hemiconvulsion–hemiplegia and epilepsy (IHHE) syndrome is defined as a specific syndrome in patients < 2 years of age, presenting as a new onset refractory status epilepticus with unilateral motor seizures and acute imaging
Externí odkaz:
https://doaj.org/article/e13b91728ae1452db944a4c05a9908cf
Autor:
Esra Sarigecili, Meltem Cobanogullari Direk, Mustafa Komur, Sevcan Tug Bozdogan, Cetin Okuyaz
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 696-699 (2020)
We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exo
Externí odkaz:
https://doaj.org/article/2a99ea9e455745798d5fbefec64d7096
Autor:
Xiao-Rong Liu, Xing-Xing Xu, Si-Mei Lin, Cui-Ying Fan, Ting-Ting Ye, Bin Tang, Yi-Wu Shi, Tao Su, Bing-Mei Li, Yong-Hong Yi, Jian-Hong Luo, Wei-Ping Liao
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Objective: The objective of this study is to explore the role of GRIN2A gene in idiopathic generalized epilepsies and the potential underlying mechanism for phenotypic variation.Methods: Whole-exome sequencing was performed in a cohort of 88 patients
Externí odkaz:
https://doaj.org/article/b804738b5f7a465d8119396683083633
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Mutations in N-methyl-d-aspartate receptors (NMDAR) subunits have been implicated in a growing number of human neurodevelopmental disorders. Previously, a de novo mutation in GRIN2A, encoding the GluN2A subunit, was identified in a patient with sever
Externí odkaz:
https://doaj.org/article/4288fef1630e46d9bd186b464f6df8b6