TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara +18 more
wiley +1 more source
The Knowledge of the Securitate: Secret Agents as Anthropologists
Studia Universitatis Babes-Bolyai Sociologia, 2017 In this paper I regard the Securitate (the Romanian secret police) as an epistemic form through which the socialist state gathered knowledge about reality, while it also performatively sought to create reality in keeping with its ideological ...
Poenaru Florin
doaj +1 more source
Welfare reform and future challenges in the Republic of Korea [PDF]
, 2002 노트 : The author is at present Research Coordinator with the UN Research Institute for Social Development (UNRISD) while on leave from Sung Kyun Kwan University, Seoul. He has published books and articles on East Asian social policy including recent paper,
Kwon, Huck ju
core
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Forest frontiers out of control: The long-term effects of discourses, policies, and markets on conservation and development of the Brazilian Amazon. [PDF]
Ambio, 2021 Pokorny B +3 more
europepmc +1 more source
Foreign direct investment in East Asian newly industrializing economies [PDF]
This paper examines political economy of MNCs in NIEs in East Asia. It focuses on the relationship between MNCs and the states in these countries. This study argues that MNCs played important role in the industrialization of some of these countries.
dumludag, devrim
core +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
"Does Chinese philosophy count as philosophy?": decolonial awareness and practices in international English medium instruction programs. [PDF]
High Educ (Dordr), 2023 Song Y.
europepmc +1 more source
‘Developmental dysmusia (developmental musical dyslexia)’ [PDF]
Developmental Medicine & Child Neurology, 2000 openaire +2 more sources
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source