Results 191 to 200 of about 2,280,977 (356)
Amino acids precursors in lunar finds [PDF]
The consistent pattern is discussed of amino acids found in lunar dust from Apollo missions. The evidence indicates that compounds yielding amino acids were implanted into the surface of the moon by the solar wind, and the kind and amounts of amino acids
Fox, S. W. +4 more
core +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Preparation of Phenyl Thiohydantoins from Some Natural Amino Acids. [PDF]
, 1950 Pehr Edman +3 more
openalex +1 more source
Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi +6 more
wiley +1 more source
MICROWAVE SPECTROSCOPY OF BIOLOGICAL SUBSTANCES. I. PARAMAGNETIC RESONANCE IN X-IRRADIATED AMINO ACIDS AND PROTEINS [PDF]
, 1955 Walter Gordy, W. B. Ard, Howard Shields
openalex +1 more source
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source
Age- and Periodontal Disease Independent Correlation of Salivary Amino Acids. [PDF]
In VivoTanaka S, Sakagami H, Sugimoto M.
europepmc +1 more source