Voices that matter: Bereaved carers' perspectives of support and person-centred care in residential aged care homes. [PDF]
Brose JM +4 more
europepmc +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Challenges in the End-of-Life Care for Patients With Severe Persistent Mental Illness: A Case Series. [PDF]
Jayakody K, Bajaj I, Blomeley D.
europepmc +1 more source
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
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
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
Co-Designing End-of-Life Care for People With Pre-Existing Severe Mental Illness: Insights From Multiple Stakeholder Consultations. [PDF]
Cui J, Zheng C, Yeung CC, Chan HY.
europepmc +1 more source
Meaning and Influencing Factors of a Good Death for Community-Dwelling Individuals With Dementia: An Integrative Review. [PDF]
Park JS, Cho H, Park WS, Kim H.
europepmc +1 more source
Final costs: The emotional impact of providing end-of-life care. [PDF]
Elton C.
europepmc +1 more source
Reflections on wishes and needs of adults living with the life-threatening disease Duchenne muscular dystrophy. [PDF]
Drivsholm PZ, Handberg C.
europepmc +1 more source

