Results 271 to 280 of about 1,188,878 (324)

Epitope binning for multiple antibodies simultaneously using mammalian cell display and DNA sequencing. [PDF]

open access: yesCommun Biol
Lin N   +5 more
europepmc   +1 more source

Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real‐world cohort study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven   +14 more
wiley   +1 more source

ALS plasma biomarkers reveal neurofilament and pTau correlate with disease onset and progression

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We performed a pilot screen to assess the utility of the NULISA™ (Nucleic‐acid‐Linked Immuno‐Sandwich Assay) platform in the identification of amyotrophic lateral sclerosis (ALS) biomarkers. Methods Plasma from 86 individuals (48 ALS, 18 asymptomatic C9orf72 repeat expansion carriers (AsymC9), and 20 healthy controls) was analyzed ...
Eleanor V. Thomas   +10 more
wiley   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

open access: yesAnnals 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

Tracking Response and Resistance in Acute Myeloid Leukemia through Single-Cell DNA Sequencing Helps Uncover New Therapeutic Targets. [PDF]

open access: yesInt J Mol Sci
Bruno S   +21 more
europepmc   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

open access: yesAnnals 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

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