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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
Protecting Against Unintended Risk From Student Quality Improvement Projects in Health Care. [PDF]
Bryant-Gawthrop I.
europepmc +1 more source
Carbon emission governance and public health efficiency in transitional China: Regional differences and spatial aggregation. [PDF]
Wei Y, Guo L, Tao Q, Wei H.
europepmc +1 more source
Missing infrastructure for real-world predictive AI impact. [PDF]
Perry BI +13 more
europepmc +1 more source
A survey of public attitudes toward secondary research governance oversight: Evidence from Singapore's TRUST platform. [PDF]
Toh HJ +4 more
europepmc +1 more source
Indigenous sovereignty and the limits of the Canadian Precision Health Initiative. [PDF]
Kolopenuk J, Smith RWA.
europepmc +1 more source

