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Analysing cerebrospinal fluid with explainable deep learning: From diagnostics to insights

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (1)

AimAnalysis of cerebrospinal fluid (CSF) is essential for diagnostic workup of patients with neurological diseases and includes differential cell typi......

Icos gene disruption in non-obese diabetic mice elicits myositis associated with anti-troponin T3 autoantibodies

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (1)

AimsIdiopathic inflammatory myopathies (IIM) are autoimmune inflammatory disorders leading to skeletal muscle weakness and disability. The pathophysio......

Insights into the pathological basis of dementia from population-based neuropathology studies

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (4)

The epidemiological neuropathology perspective of population and community-based studies allows unbiased assessment of the prevalence of various patho......

Is islet amyloid polypeptide indeed expressed in the human brain?

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (4)

AimsThis study aims to study the association between pancreatic islet amyloid polypeptide (IAPP) and Alzheimer's disease neuropathological change (ADN......

RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (6)

AimAmyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease with limited therapeutic options. A key factor limiting the develo......

Neuronal and astrocytic tetraploidy is increased in drug-resistant epilepsy

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (1)

AimsEpilepsy is one of the most prevalent neurological diseases. A third of patients with epilepsy remain drug-resistant. The exact aetiology of drug-......

Amyloid precursor protein βCTF accumulates in synapses in sporadic and genetic forms of Alzheimer's disease

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (1)

Aims: Amyloid precursor protein (APP) -C-terminal fragment (CTF) may have a neurotoxic role in Alzheimer's disease (AD). CTF accumulates in the brains......

Robust methylation-based classification of brain tumours using nanopore sequencing

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (1)

Background DNA methylation-based classification of cancer provides a comprehensive molecular approach to diagnose tumours. In fact, DNA methylation pr......

The humanised CYP2C19 transgenic mouse exhibits cerebellar atrophy and movement impairment reminiscent of ataxia

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (1)

AimsCYP2C19 transgenic mouse expresses the human CYP2C19 gene in the liver and developing brain, and it exhibits altered neurodevelopment associated w......

TDP-43 pathology and functional deficits in wild-type and ALS/FTD mutant cyclin F mouse models

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (2)

Aims: Amyotrophic lateral sclerosis (ALS) is characterised by a progressive loss of upper and lower motor neurons leading to muscle weakness and event......

Quantitative cellular changes in multiple system atrophy brains

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (6)

Multiple system atrophy (MSA) is a neurodegenerative disorder characterised by a combined symptomatology of parkinsonism, cerebellar ataxia, autonomic......

Intelligence quotient-genotype association in dystrophinopathies: A systematic review and meta-analysis

期刊: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2023; 49 (3)

AimsBecker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are associated with intelligence quotients (IQs) lower than the normative va......

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