Results 81 to 90 of about 514,902 (292)
Psychiatric genetics and the structure of psychopathology [PDF]
, 2018 For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent ...
Andreassen, Ole A. +5 more
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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
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
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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
Heterogeneity of asthma–COPD overlap syndrome
International Journal of COPD, 2017 Hyonsoo Joo,1 Deokjae Han,1 Jae Ha Lee,2 Chin Kook Rhee1 1Division of Pulmonary, Allergy and Critical Care Medicine, Department of Internal Medicine, Seoul St Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, 2Division
Joo H, Han D, Lee JH, Rhee CK
doaj
Pendekatan Terapi Asthma-COPD Overlap (ACO) [The Approach of Asthma-COPD Overlap Syndrome Treatment]
Jurnal Respirasi, 2017 Asthma and COPD are the most common chronic airways disease and have different clinical manifestations and treatments. Asthma is an airway inflammatory disease mediated by Th2 cytokines, CD4 + lymphocytes and eosinophils, whereas inflammation of COPD is ...
Muhammad Amin, Alamsyah Sitepu
doaj +1 more source
Sparse Graph Codes for Quantum Error-Correction
, 2003 We present sparse graph codes appropriate for use in quantum error-correction. Quantum error-correcting codes based on sparse graphs are of interest for three reasons.
MacKay, David J. C. +2 more
core +9 more sources
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Is Consciousness Intrinsic?: A Problem for the Integrated Information Theory [PDF]
, 2019 The Integrated Information Theory of consciousness (IIT) claims that consciousness is identical to maximal integrated information, or maximal Φ. One objection to IIT is based on what may be called the intrinsicality problem: consciousness is an intrinsic
Mørch, Hedda Hassel
core
Annals of the Rheumatic Diseases, 1990 R, Cervera, M A, Khamashta, G R, Hughes
openaire +2 more sources