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Could the PON1 phenotype play a key role in insulin resistance?
Aim/objectivesRecent studies have shown that Paraoxonase (PON1) enzyme plays a possible role in insulin synthesis by stimulating insulin release from...
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Paraneoplastic Neurological Syndromes: Transitioning Between the Old and the New
Purpose of ReviewParaneoplastic neurological syndromes (PNS) are caused by nervous system-targeting aberrant anti-tumoral immune responses. We review...
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Relationship between cerebrospinal fluid/serum albumin quotient and phenotype in amyotrophic lateral sclerosis: a retrospective study on 328 patients
BackgroundWe analysed the relationship between cerebrospinal fluid (CSF)/serum albumin quotient (Q-Alb) and phenotype in a large cohort of patients...
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Phenotype variability and natural history of X-linked myopathy with excessive autophagy
ObjectiveX-linked myopathy with excessive autophagy (XMEA) linked to the VMA21 gene leads to autophagy failure with progressive vacuolation and...
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Distinct smell and taste disorder phenotype of post-acute COVID-19 sequelae
PurposeOlfactory dysfunction (OD) commonly accompanies coronavirus disease 2019 (COVID-19). We investigated the kinetics of OD resolution following...
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Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria
Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially...
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The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review
Develo** drugs for rare diseases is challenging, and the precision and objectivity of outcome measures is critical to this process. In recent...
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The quest for a biological phenotype of adolescent non-suicidal self-injury: a machine-learning approach
Non-suicidal self-injury (NSSI) is a transdiagnostic psychiatric symptom with high prevalence and relevance in child and adolescent psychiatry....
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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
ObjectiveTo describe a new phenotype associated with a novel variant in BAG3 : autosomal dominant adult-onset distal hereditary motor neuronopathy.
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PET imaging of reactive astrocytes in neurological disorders
The reactive astrocytes manifest molecular, structural, and functional remodeling in injury, infection, or diseases of the CNS, which play a critical...
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Ferrostatin-1 Polarizes Microglial Cells Toward M2 Phenotype to Alleviate Inflammation After Intracerebral Hemorrhage
BackgroundIntracerebral hemorrhage (ICH) is one of the most lethal stroke types and lacks effective therapeutic regimens. Recently, evidence has...
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Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC
The GGC repeat expansions in the NOTCH2NLC gene are associated with multiple neurodegenerative disorders. Herein, we report the clinical phenotype in...
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Assessing the joint effects of mitochondrial genes and physical activity on the psychiatric phenotype of subjective well-being based on the UK Biobank data
Subjective well-being (SWB) is an important measure for mental health status. Previous research has shown that physical activity can affect an...
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Curation of causal interactions mediated by genes associated with autism accelerates the understanding of gene-phenotype relationships underlying neurodevelopmental disorders
Autism spectrum disorder (ASD) comprises a large group of neurodevelopmental conditions featuring, over a wide range of severity and combinations, a...
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Paraneoplastic neurological syndromes associated with renal or bladder cancer: case series and PRISMA-IPD systematic review
BackgroundThe link between paraneoplastic neurological syndromes (PNS) and renal cell and bladder cancer (RCC/BC) is rare and uncertain. Our aim was...
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Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
BackgroundPreimplantation genetic testing for monogenic disorders (PGT-M) is now widely used as an effective strategy to prevent various monogenic or...
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Neurological soft signs and structural network changes: a longitudinal analysis in first-episode schizophrenia
BackgroundNeurological soft signs (NSS) are often reported in patients with schizophrenia and may vary with psychopathological symptoms during the...
