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
In the shadow of the state: Lived pluralism in Ramla. [PDF]
Weiss E.
europepmc +1 more source
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao +6 more
wiley +1 more source
Letter to the editor regarding 'Liberal or restrictive transfusion for veno-arterial extracorporeal membrane oxygenation patients: a target trial emulation using the OBLEX study data'. [PDF]
van der Meer TA +4 more
europepmc +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
Changes in firearm intentions and behaviors after the 2024 United States presidential election. [PDF]
Anestis MD +4 more
europepmc +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
Conservative versus liberal oxygen therapy in mechanically ventilated patients: A systematic review with meta-analysis. [PDF]
Freitas Valverde G +5 more
europepmc +1 more source
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Influence of multiple trauma on the effect of transfusion strategies in patients with traumatic brain injury: a sub-study of the HEMOTION trial. [PDF]
Bouras M +42 more
europepmc +1 more source

