Results 41 to 50 of about 57,972 (301)

Long‐Term Ambient Benzene Exposure and Brain Disorders Among Urban Adults: Effect Modification by Genetic Susceptibility and Potential Mediation by Plasma Proteins

open access: yesAdvanced Science, EarlyView.
Low‐level ambient benzene exposure is associated with increased risks of multiple brain disorders in urban adults. Genetic susceptibility modifies these associations, while plasma proteomics points to potential biological pathways linking benzene exposure to adverse brain health.
Jianhui Guo   +10 more
wiley   +1 more source

The genetic contribution of the NO system at the glutamatergic post-synapse to schizophrenia : further evidence and meta-analysis

open access: yes, 2014
NO is a pleiotropic signaling molecule and has an important role in cognition and emotion. In the brain, NO is produced by neuronal nitric oxide synthase (NOS-I, encoded by NOS1) coupled to the NMDA receptor via PDZ.
Grussendorf, H.   +24 more
core   +1 more source

Frequency and pattern of childhood symptom onset reported by first episode schizophrenia and clinical high risk youth [PDF]

open access: yes, 2016
Background—Psychosis prevention and early intervention efforts in schizophrenia have focused increasingly on sub-threshold psychotic symptoms in adolescents and young adults.
Mesholam-Gately, Raquelle   +11 more
core   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

Reliability and validity of the Chinese version of the Childhood Trauma Questionnaire-Short Form for inpatients with schizophrenia.

open access: yesPLoS ONE, 2018
BACKGROUND:The evaluation of childhood trauma is essential for the treatment of schizophrenia. The short form of Childhood Trauma Questionnaire (CTQ-SF) is a widely used measure of the experience of childhood trauma in the general population ...
Wen-Juan Jiang   +5 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Duration judgements in patients with schizophrenia [PDF]

open access: yes, 2003
Background. The ability to encode time cues underlies many cognitive processes. In the light of schizophrenic patients' compromised cognitive abilities in a variety of domains, it is noteworthy that there are numerous reports of these patients displaying
Elvevåg, Brita   +5 more
core   +1 more source

Sleep spindle activity in childhood onset schizophrenia: Diminished and associated with clinical symptoms [PDF]

open access: yes, 2020
Neuroimaging studies of childhood onset schizophrenia (COS), a rare yet severe form of schizophrenia with an onset before the age of 13 years, have shown continuity with adult onset schizophrenia.
Markovic, Andjela   +7 more
core   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

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