Results 121 to 130 of about 401,067 (330)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit   +16 more
wiley   +1 more source

Case series: Potential use of guanfacine for safer management of behavioral disturbances in patients with dementia

open access: yesPCN Reports
Background Behavioral and psychological symptoms of dementia (BPSD), including irritability, agitation, and anxiety, are common and cause significant distress for both patients and caregivers.
Jeong Hoo Lee, Joji Suzuki
doaj   +1 more source

Computational Neuropsychiatry – Schizophrenia as a Cognitive Brain Network Disorder [PDF]

open access: gold, 2014
Maria R. Dauvermann   +8 more
openalex   +1 more source

Women can bear a bigger burden: ante- and post-mortem evidence for reserve in the face of tau. [PDF]

open access: yes, 2020
In this study, we aimed to assess whether women are able to withstand more tau before exhibiting verbal memory impairment. Using data from 121 amyloid-β-positive Alzheimer's Disease Neuroimaging Initiative participants, we fit a linear model with Rey ...
Alzheimer’s Disease Neuroimaging Initiative   +6 more
core  

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

First episode of psychiatric and neuropsychiatric disease among patients infected with COVID‐19: A scoping review

open access: yesPCN Reports
This scoping review aims to examine the frequency and prevalence of neuropsychiatric disorders reported in patients infected with coronavirus disease 2019, and the mechanisms by which these develop during and post infection.
Wali Yousufzai   +12 more
doaj   +1 more source

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi   +6 more
wiley   +1 more source

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