Results 161 to 170 of about 390,558 (314)
Abstract Racism and sexism are associated with posttraumatic stress disorder (PTSD) and substance use disorder (SUD), yet few studies examine their role in co‐occurring PTSD/SUD. Through qualitative interviews with 23 people of color with PTSD/SUD, we found that racism and sexism influence the onset of men and women of color's PTSD/SUD in gendered ways.
Mallet R. Reid +6 more
wiley +1 more source
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Knowledge Graph and Large Language Model-Based Analysis of fMRI Brain Functional Neuroimaging Research. [PDF]
Liu Z +5 more
europepmc +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
The state of clinical neuroimaging in 2007-08 begins with the migration from conventional CT scanners to 64 multichannel CT which now represents the standard of care.
Charles L. Truwit, MD
core
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Subthalamic beta activity and neuroimaging concordance in deep brain stimulation: electrode placement and clinical outcomes. [PDF]
Razkin M +9 more
europepmc +1 more source

