Results 151 to 160 of about 1,116,177 (240)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone   +8 more
wiley   +1 more source

Correction: Djordjevic et al. Reliability of Ultrasound Measurements in the Assessment of Femoral Trochlear Morphology in Healthy Adolescents. <i>Diagnostics</i> 2026, <i>16</i>, 1381. [PDF]

open access: yesDiagnostics (Basel)
Djordjevic SA   +12 more
europepmc   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich   +19 more
wiley   +1 more source

Discharge Plasma Diagnostics by Means of Spectral Line Profile Studies

open access: yes
Discharge plasma diagnostics by means of spectral line profile ...
Zorina, Natalia   +2 more
core  

The spiral evolution of techniques for the laboratory diagnosis of microbial infections. [PDF]

open access: yesFront Cell Infect Microbiol
Tang YW, Ismail N, García-Contreras R.
europepmc   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon   +11 more
wiley   +1 more source

Business Diagnostics : guidelines to practical tasks for Master's (second) degree higher education students of speciality 051 «Economics» of the study program «Business Economics»

open access: yes
The main issues concerning the methodology and tools for solving practical tasks in the course are set out. Practical tasks are presented for the formation of professional competences in the complex economic diagnostics of the financial, investment and ...
Usenko N., Mosumova A., Martiyanova M.
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

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