Results 161 to 170 of about 1,474,594 (273)

Genetic testing in paediatric neurological disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba   +15 more
wiley   +1 more source

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

open access: yesThe FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer   +6 more
wiley   +1 more source

Periodontitis and Chronic Conditions in Older Adults: A Scoping Review and Evidence Map of Systematic Reviews

open access: yesGerodontology, EarlyView.
ABSTRACT Background Periodontitis is a prevalent chronic inflammatory condition that frequently co‐occurs with systemic chronic diseases. Although older adults experience a high burden of both periodontitis and chronic conditions, the extent to which age‐specific evidence has been synthesised remains unclear.
Manisha Tamrakar   +4 more
wiley   +1 more source

Metabolic Profiling of Circulating and Tumour‐Infiltrating T Cells Uncovers Bioenergetic Checkpoints Linked With Immune and Clinical Skewing in Melanoma Patients

open access: yesImmunology, EarlyView.
In this study, we revealed the disturbed metabolic status of circulating and tumour‐infiltrating CD4+ and CD8+ T cells in melanoma patients through targeted metabolomic and lipidomic (on sorted subsets) and at single cell level using the SCENITH method.
Hugo Brouque   +11 more
wiley   +1 more source

Neurocognitive profiles in early childhood in relation to clinical and functional outcomes in middle childhood in offspring at familial high‐risk of schizophrenia or bipolar disorder: The Danish High‐Risk and Resilience Study

open access: yesJournal of Child Psychology and Psychiatry, EarlyView.
Background Widespread neurocognitive impairments exist in children at familial high‐risk of schizophrenia (FHR‐SZ), whereas evidence is mixed in children at FHR of bipolar disorder (FHR‐BP). Neurocognitive heterogeneity is well‐established, but associations with longitudinal clinical and functional outcomes remain unexplored.
Nicoline Hemager   +9 more
wiley   +1 more source

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