Come le Regioni possono utilizzare il Rapporto OsMed per condividere le azioni di miglioramento dell’appropriatezza. [PDF]
Sansone S +4 more
europepmc +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Serum Vitamin D, A, and E Concentrations and Their Associations with Chronic Diseases in Adult Patients Referred to Italian General Practitioners' Offices. [PDF]
Baron P +23 more
europepmc +1 more source
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Prevention of sudden unexpected postnatal collapse in wellbeing newborns by remote digital health technologies. [PDF]
Berger M +6 more
europepmc +1 more source
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Correction: Serious Game for the Nursing Assessment of Home-Dwelling Older Adults: Development and Validation Study. [PDF]
Busca E +11 more
europepmc +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Synergism between Distribution, Mechanistic and Omics Analyses in Studies on Assessing Environmental Exposure and Human Health Impact. [PDF]
Siu KWM.
europepmc +1 more source

