SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Automating the segmentation, date extraction, and classification of multi-report PDFs in outside medical records using optical character recognition and generative artificial intelligence. [PDF]
Damani S +8 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
Post-progression treatment patterns in systemic autoimmune rheumatic disease-associated interstitial lung disease: insights from a US retrospective, observational study. [PDF]
Yang J +4 more
europepmc +1 more source
Partitioned cache architectures for reduced NBTI-induced aging [PDF]
Calimera, Andrea +3 more
core +1 more source
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers +7 more
wiley +1 more source
The impact of data source on real-world medication adherence and exposure measures: From prescription to sold. [PDF]
Zheng Y +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
Association between Broad-Spectrum Antibiotic Use and Risk of Early-Onset Colorectal Cancer. [PDF]
Chao CR +7 more
europepmc +1 more source

