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Unsuccessful transmissions of atypical genetic Creutzfeldt–Jakob disease (PRNP p.T183A-129M) in transgenic mice
Unsuccessful transmissions of atypical genetic Creutzfeldt–Jakob disease (PRNP p.T183A-129M) in transgenic mice
Aguilar-Calvo P, Callender JA, Sigurdson CJ (2021) Short and sweet: How glycans impact prion conversion, cofactor interact...
Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors
Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors
Aggressive pituitary neuroendocrine tumors (PitNETs)/adenomas are characterized by progressive growth despite surgery and ...
Pathologic and clinical correlates of region-specific brain GFAP in Alzheimer’s disease
Pathologic and clinical correlates of region-specific brain GFAP in Alzheimer’s disease
Plasma glial fibrillary acidic protein (GFAP) is an emerging biomarker of Alzheimer’s disease (AD), with higher bloo...
BAG3’s dual roles in Parkinson’s disease and cardiomyopathy: benefit or liability?
BAG3’s dual roles in Parkinson’s disease and cardiomyopathy: benefit or liability?
Antoku K, Maser RS, Scully WJ, Delach SM, Johnson DE (2001) Isolation of Bcl-2 binding proteins that exhibit homology with...
SMOC1 colocalizes with Alzheimer’s disease neuropathology and delays Aβ aggregation
SMOC1 colocalizes with Alzheimer’s disease neuropathology and delays Aβ aggregation
SMOC1 has emerged as one of the most significant and consistent new biomarkers of early Alzheimer’s disease (AD). Re...
Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency
Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency
Lipid storage myopathies are considered inborn errors of metabolism affecting the fatty acid metabolism and leading to acc...
Elevated expression of the retrotransposon LINE-1 drives Alzheimer’s disease-associated microglial dysfunction
Elevated expression of the retrotransposon LINE-1 drives Alzheimer’s disease-associated microglial dysfunction
Aberrant activity of the retrotransposable element long interspersed nuclear element-1 (LINE-1) has been hypothesized to c...
Functional profiling of murine glioma models highlights targetable immune evasion phenotypes
Functional profiling of murine glioma models highlights targetable immune evasion phenotypes
Cancer-intrinsic immune evasion mechanisms and pleiotropy are a barrier to cancer immunotherapy. This is apparent in certa...
Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history
Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history
Sudden unexplained death in childhood (SUDC) is death of a child ≥ 12 months old that is unexpl...
MN1 immunohistochemistry is a sensitive diagnostic biomarker for primitive CNS tumors with MN1 fusion
MN1 immunohistochemistry is a sensitive diagnostic biomarker for primitive CNS tumors with MN1 fusion
Cuoco JA, Williams S, Klein BJ, Borowicz VM, Ho H, Stump MS et al (2024) Astroblastoma with a novel YAP1::BEND2 fusion: a ...
Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia
Neuronal STING activation in amyotrophic lateral sclerosis and frontotemporal dementia
The stimulator of interferon genes (STING) pathway has been implicated in neurodegenerative diseases, including Parkinson&...
Gene transcript fusions are associated with clinical outcomes and molecular groups of meningiomas
Gene transcript fusions are associated with clinical outcomes and molecular groups of meningiomas
Agnihotri S, Suppiah S, Tonge PD, Jalali S, Danesh A, Bruce JP et al (2017) Therapeutic radiation for childhood cancer dri...
Disentangling and quantifying the relative cognitive impact of concurrent mixed neurodegenerative pathologies
Disentangling and quantifying the relative cognitive impact of concurrent mixed neurodegenerative pathologies
Neurodegenerative pathologies such as Alzheimer disease neuropathologic change (ADNC), Lewy body disease (LBD), limbic-pre...
Correction: Abeta targets of the biosimilar antibodies of Bapineuzumab, Crenezumab, Solanezumab in comparison to an antibody against N-truncted Abeta in sporadic Alzheimer disease cases and mouse models
Correction: Abeta targets of the biosimilar antibodies of Bapineuzumab, Crenezumab, Solanezumab in comparison to an antibody against N-truncted Abeta in sporadic Alzheimer disease cases and mouse models
Under the heading “Material and Methods section at page 716”, the text was incorrectl...
A muscarinic receptor antagonist reverses multiple indices of diabetic peripheral neuropathy: preclinical and clinical studies using oxybutynin
A muscarinic receptor antagonist reverses multiple indices of diabetic peripheral neuropathy: preclinical and clinical studies using oxybutynin
Preclinical studies indicate that diverse muscarinic receptor antagonists, acting via the M1 sub-type, promote neuritogene...
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy
TMEM106B coding variant is protective and deletion detrimental in a mouse model of tauopathy
TMEM106B is a risk modifier of multiple neurological conditions, where a single coding variant and multiple non-coding SNP...
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion
Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder of genetic etiology, characterized by paternal deletion ...
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau
Landscape of brain myeloid cell transcriptome along the spatiotemporal progression of Alzheimer’s disease reveals distinct sequential responses to Aβ and tau
Human microglia are critically involved in Alzheimer’s disease (AD) progression, as shown by genetic and molecular s...
Characterization of monoamine oxidase-B (MAO-B) as a biomarker of reactive astrogliosis in Alzheimer’s disease and related dementias
Characterization of monoamine oxidase-B (MAO-B) as a biomarker of reactive astrogliosis in Alzheimer’s disease and related dementias
Reactive astrogliosis accompanies the two neuropathological hallmarks of Alzheimer’s disease (AD)—Aβ plaq...
Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases
Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases
Transcription factor EB (TFEB) is a master regulator of genes involved in the maintenance of autophagic and lysosomal home...
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis
Regulated cell death and its role in Alzheimer’s disease and amyotrophic lateral sclerosis
Despite considerable research efforts, it is still not clear which mechanisms underlie neuronal cell death in neurodegener...
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype
Metabologenomic characterization uncovers a clinically aggressive IDH mutant glioma subtype
Mutations in the pivotal metabolic isocitrate dehydrogenase (IDH) enzymes are recognized to drive the molecular footprint ...
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer’s disease
The risk of developing Alzheimer’s disease (AD) significantly increases in individuals carrying the APOEε4 alle...
Histologic correlates of “Choroidal abnormalities” in Neurofibromatosis type 1 (NF1)
Histologic correlates of “Choroidal abnormalities” in Neurofibromatosis type 1 (NF1)
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural c...
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as...
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion
The most prominent genetic cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) ...
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification
Nanopore sequencing from formalin-fixed paraffin-embedded specimens for copy-number profiling and methylation-based CNS tumor classification
Microarray-based DNA methylation profiling has emerged as a powerful tool for central nervous system (CNS) tumor classific...
A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation
A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation
Diffuse midline gliomas (DMG) H3 K27-altered are incurable grade 4 gliomas and represent a major challenge in neuro-oncolo...
G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
The G4C2 repeat expansion in the C9orf72 gene is the most common genetic cause of Amyotrophic Lateral Sclerosis and Fronto...
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss
Microglia activation in periplaque white matter in multiple sclerosis depends on age and lesion type, but does not correlate with oligodendroglial loss
Multiple sclerosis (MS) is the most frequent inflammatory and demyelinating disease of the CNS. The disease course in MS i...
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