Results 201 to 210 of about 890,466 (364)
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi +8 more
wiley +1 more source
KINASES FOR THE SYNTHESIS OF COENZYME A AND TRIPHOSPHOPYRIDINE NUCLEOTIDE
, 1954 T.P. Wang, Nathan O. Kaplan
openalex +1 more source
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks +20 more
wiley +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
NUCLEOTIDE COMPOSITION OF PENTOSE NUCLEIC ACIDS FROM YEAST AND MAMMALIAN TISSUES
, 1950 Erwin Chargaff +5 more
openalex +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Chemical Properties of 3-Substituted Pyridine Analogues of Diphosphopyridine Nucleotide
, 1959 Bruce M. Anderson +2 more
openalex +1 more source
The Acid-soluble Nucleotides of Barley and Oat Plants. [PDF]
, 1957 Rolf Bergkvist +6 more
openalex +1 more source
Разработка и регистрация лекарственных средств, 2019 The article presents information on the structure, classification and functions of NO-synthases. The main inhibitors of the enzyme, as well as their mechanisms of action, are considered. Among the substances activating the activity of the enzyme, special
E. S. Kokareva +6 more
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