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Assessment of gastrointestinal function and enteric nervous system changes over time in the A53T mouse model of Parkinson’s disease
Assessment of gastrointestinal function and enteric nervous system changes over time in the A53T mouse model of Parkinson’s disease
Gastrointestinal (GI) dysfunctions, including constipation and delayed stomach emptying, are prevalent and debilitating no...
Collision tumor, a metastatic melanoma within a meningioma: a case report
Collision tumor, a metastatic melanoma within a meningioma: a case report
Collision tumors, involving two distinct neoplasms in a single anatomical site, are rare. Among these, the metastasis of m...
The role of plasma metagenomic sequencing in identification of Balamuthia mandrillaris encephalitis
The role of plasma metagenomic sequencing in identification of Balamuthia mandrillaris encephalitis
Balamuthia mandrillaris is a rare, free-living amoeba (FLA) that causes granulomatous amoebic encephalitis, a disease with...
A novel BRAF::PTPRN2 fusion in meningioma: a case report
A novel BRAF::PTPRN2 fusion in meningioma: a case report
Gene fusion events have been linked to oncogenesis in many cancers. However, gene fusions in meningioma are understudied c...
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal muscles
The SARS-CoV-2 pandemic not only resulted in millions of acute infections worldwide, but also in many cases of post-infect...
Glioblastoma pseudoprogression and true progression reveal spatially variable transcriptional differences
Glioblastoma pseudoprogression and true progression reveal spatially variable transcriptional differences
Post-resection radiologic monitoring to identify areas of new or progressive enhancement concerning for cancer recurrence ...
Cryo-EM structures of Aβ40 filaments from the leptomeninges of individuals with Alzheimer’s disease and cerebral amyloid angiopathy
Cryo-EM structures of Aβ40 filaments from the leptomeninges of individuals with Alzheimer’s disease and cerebral amyloid angiopathy
We used electron cryo-microscopy (cryo-EM) to determine the structures of Aβ40 filaments from the leptomeninges of in...
Transformation of non-neuritic into neuritic plaques during AD progression drives cortical spread of tau pathology via regenerative failure
Transformation of non-neuritic into neuritic plaques during AD progression drives cortical spread of tau pathology via regenerative failure
Extracellular amyloid-β (Aβ) plaques and intracellular aggregates of tau protein in form of neurofibrillary tang...
CDKN2A/B deletions are strongly associated with meningioma progression: a meta-analysis of individual patient data
CDKN2A/B deletions are strongly associated with meningioma progression: a meta-analysis of individual patient data
Homozygous CDKN2A/B deletion has been associated with an increased risk of recurrence in meningiomas. However, the evidenc...
Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors
Advances in genetic abnormalities, epigenetic reprogramming, and immune landscape of intracranial germ cell tumors
Intracranial germ cell tumors (IGCTs) are a rare subtype of central nervous system neoplasms that predominantly affect you...
Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma
Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma
In IDH-mutant astrocytoma, IDH2 mutation is quite rare and biological mechanisms underlying tumor progression in IDH2-muta...
The role of neuromuscular ultrasound in diagnostics of peripheral neuropathies induced by cytostatic agents or immunotherapies
The role of neuromuscular ultrasound in diagnostics of peripheral neuropathies induced by cytostatic agents or immunotherapies
A relevant number of cancer patients who receive potentially neurotoxic cytostatic agents develop a chemotherapy-induced p...
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Pathogenic germline variants in the DNA polymerase genes POLE and POLD1 cause polymerase proofreading-associated polyposis...
Neuronal SNCA transcription during Lewy body formation
Neuronal SNCA transcription during Lewy body formation
Misfolded α-synuclein (α-syn) is believed to contribute to neurodegeneration in Lewy body disease (LBD) based on...
Molecular and functional profiling of chemotolerant cells unveils nucleoside metabolism-dependent vulnerabilities in medulloblastoma
Molecular and functional profiling of chemotolerant cells unveils nucleoside metabolism-dependent vulnerabilities in medulloblastoma
Chemotherapy resistance is considered one of the main causes of tumor relapse, still challenging researchers for the ident...
Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition
Neuronal dysfunction caused by FUSR521G promotes ALS-associated phenotypes that are attenuated by NF-κB inhibition
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative diseases that belong t...
Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer’s disease brain
Tau seed amplification assay reveals relationship between seeding and pathological forms of tau in Alzheimer’s disease brain
Tau seed amplification assays (SAAs) directly measure the seeding activity of tau and would therefore be ideal biomarkers ...
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting
As the progression of low-grade diffuse astrocytomas into grade 4 tumors significantly impacts patient prognosis, a better...
EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma
EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma
Epithelial membrane protein 3 (EMP3) is an N-glycosylated tetraspanin with a putative trafficking function. It is highly e...
Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb
Deep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb
Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we...
Accurate digital quantification of tau pathology in progressive supranuclear palsy
Accurate digital quantification of tau pathology in progressive supranuclear palsy
The development of novel treatments for Progressive Supranuclear Palsy (PSP) is hindered by a knowledge gap of the impact ...
Heterogeneity of cortical pTDP-43 inclusion morphologies in amyotrophic lateral sclerosis
Heterogeneity of cortical pTDP-43 inclusion morphologies in amyotrophic lateral sclerosis
Despite the presence of significant cortical pTDP-43 inclusions of heterogeneous morphologies in patients diagnosed with a...
Modelling TDP-43 proteinopathy in Drosophila uncovers shared and neuron-specific targets across ALS and FTD relevant circuits
Modelling TDP-43 proteinopathy in Drosophila uncovers shared and neuron-specific targets across ALS and FTD relevant circuits
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) comprise a spectrum of neurodegenerative diseases li...
Correction to: Dynamic profiling of medulloblastoma surfaceome
Correction to: Dynamic profiling of medulloblastoma surfaceome
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity
Identifying genetic modifiers of familial amyotrophic lateral sclerosis (ALS) may reveal targets for therapeutic modulatio...
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disease, caused by mutations in the DMD gene encoding...
Antisense oligonucleotide-based targeting of Tau-tubulin kinase 1 prevents hippocampal accumulation of phosphorylated tau in PS19 tauopathy mice
Antisense oligonucleotide-based targeting of Tau-tubulin kinase 1 prevents hippocampal accumulation of phosphorylated tau in PS19 tauopathy mice
Tau tubulin kinase-1 (TTBK1), a neuron-specific tau kinase, is highly expressed in the entorhinal cortex and hippocampal r...
Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study
Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant epigenetic disorder with highly variable muscle inv...
Cryo-EM structures of tau filaments from the brains of mice transgenic for human mutant P301S Tau
Cryo-EM structures of tau filaments from the brains of mice transgenic for human mutant P301S Tau
Mice transgenic for human mutant P301S tau are widely used as models for human tauopathies. They develop neurodegeneration...
Kinetic parameters of alpha-synuclein seed amplification assay correlate with cognitive impairment in patients with Lewy body disorders
Kinetic parameters of alpha-synuclein seed amplification assay correlate with cognitive impairment in patients with Lewy body disorders
The alpha-synuclein (aSyn) seed amplification assay (SAA) can identify aSyn aggregates as indicator for Lewy body patholog...
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