Results 121 to 130 of about 306,703 (328)
Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
A Case of Multiple Sclerosis Presenting as Eight and Half Syndrome. [PDF]
, 2013 Multiple sclerosis (MS) is a chronic disease characterized by inflammation, demyelination, gliosis (scarring), and neuronal loss; the course can be relapsing-remitting or progressive.
Kaushik, M +4 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source
Disease Progression in Multiple System Atrophy: The ASPIRE Multi‐Modal Biomarker Study
Annals of Neurology, EarlyView.Objective The objective of this study was to characterize changes in candidate biomarkers in early multiple system atrophy (MSA) and identify baseline predictors of faster progression. Methods This 1‐year, multicenter, prospective study assessed clinical, neuroimaging (3T‐magnetic resonance imaging [MRI], dopamine transporter single‐photon emission ...
Margherita Fabbri +26 more
wiley +1 more source
IMMU-12. T-CELL THERAPIES DEMONSTRATE EFFICACY WITHOUT TOXICITY IN IMMUNOCOMPETENT MODELS OF BRAINSTEM TUMORS [PDF]
, 2018 Matt Schuelke +7 more
openalex +1 more source
Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders
Annals of Neurology, EarlyView.Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall +6 more
wiley +1 more source
Journal of Neurological Surgery Part A: Central European Neurosurgery, 2021 openaire +3 more sources
Annals of Neurology, EarlyView.Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer +21 more
wiley +1 more source