Results 251 to 260 of about 7,350,988 (308)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß   +22 more
wiley   +1 more source

Cerebrospinal Fluid GAD65‐Antibody Levels Accurately Identify Relevant Neurological Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Retrospective cohort study to investigate which factors most reliably distinguish incidental GAD65‐antibodies (iGAD65) from true GAD65‐antibody neurological disease (tGAD65). 167 adults with positive serum and CSF GAD65‐antibodies (> 0.02 nmol/L by radioimmunoassay) were classified as tGAD65 or iGAD65, with diagnostic performance of ...
Max Charles Herman   +9 more
wiley   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

open access: yesArthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart   +5 more
wiley   +1 more source

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