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
Distinctive features of bimanual coordination in idiopathic normal pressure hydrocephalus. [PDF]
Umemori T +3 more
europepmc +1 more source
Bakers' cyst and tibiofemoral abnormalities are more distinctive MRI features of symptomatic osteoarthritis than patellofemoral abnormalities [PDF]
Annemieke Visser +7 more
openalex +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
Diagnostic and therapeutic review of a rare gastric inflammatory fibroid polyps case with distinctive features: A case report. [PDF]
Yang HC, Qu W.
europepmc +1 more source
Cognitive and behavioral manifestations in SARS-CoV-2 infection: not specific or distinctive features? [PDF]
Stracciari A +5 more
europepmc +1 more source
The Case of a 19‐Year‐Old Woman Presenting With Headache and Transient Loss of Consciousness
Annals of Clinical and Translational Neurology, EarlyView.
Yan Lin +7 more
wiley +1 more source
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Distinctive features of blood- and ascitic fluid-derived extracellular vesicles in ovarian cancer patients. [PDF]
Gorini F +17 more
europepmc +1 more source
COVID-19 Vaccination-Associated Lymphadenopathy on FDG PET/CT: Distinctive Features in Adenovirus-Vectored Vaccine. [PDF]
Shin M +5 more
europepmc +1 more source

