Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
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
Patient-Reported Outcome Measures Used in Primary Hyperparathyroidism: A Scoping Review. [PDF]
Leblang CL +6 more
europepmc +1 more source
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
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
Analyzing the Readability of Facial Paralysis Patient-Reported Outcome Measures. [PDF]
Desai S +4 more
europepmc +1 more source
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
Patient-reported outcome measures developed for non-cystic fibrosis bronchiectasis may be applied to cystic fibrosis bronchiectasis. [PDF]
Flume PA +5 more
europepmc +1 more source
Uncovering gaps in HIV care in belgium through patient reported outcome measures and neurocognitive screening. [PDF]
Vanden Bulcke C +5 more
europepmc +1 more source
Factors associated with response to patient-reported outcome measures: a systematic review of systematic and scoping reviews, and meta-analyses. [PDF]
Peters ST +6 more
europepmc +1 more source
Language concordance in the digital collection of patient-reported outcome measures. [PDF]
Liu JB +7 more
europepmc +1 more source

