Results 181 to 190 of about 264,137 (313)

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva   +13 more
wiley   +1 more source

Mechanochemistry Meets Catalysis: Metal Complexes for Greener Organic Transformations

open access: yesAngewandte Chemie, EarlyView.
Mechanochemistry is redefining metal catalysis by controlling catalyst formulation, speciation, and deployment. This Review shows how milling, LAG, RAM, and TSE enable rapid metal‐complex assembly, distinctive catalytic manifolds, and scalable synthesis beyond solution chemistry.
Sourav Behera   +2 more
wiley   +2 more sources

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral   +52 more
wiley   +1 more source

Anionic T‐Shaped Platinum(0) Pincer Complexes and Platinum(I) Intermediates in Radical Reactions With Alkyl Halides

open access: yesAngewandte Chemie, EarlyView.
Two anionic, T‐shaped, d10 platinum(0) complexes containing a PNP pincer ligand have been isolated and characterized. These complexes react with aliphatic C‐Br bonds under formation of a platinum(II) bromide and an alkyl complex, as well as the homocoupled hydrocarbons.
Vincenz J. Kohler   +6 more
wiley   +2 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

open access: yesAnnals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta   +10 more
wiley   +1 more source

Caregiver-Associated Physical Activity Patterns, Dietary Behaviors and Interventional Beliefs in Individuals with Down Syndrome: Insights from a Large European Survey. [PDF]

open access: yesNutrients
Cahill T   +15 more
europepmc   +1 more source

Frequency‐ and Network‐Specific Changes in Functional Connectivity Reflect Pathophysiological Mechanisms across Parkinson's Disease Stages

open access: yesAnnals of Neurology, EarlyView.
Objective Parkinson's disease (PD) is increasingly conceptualized as a disorder of large‐scale brain networks, yet whether and how frequency‐specific functional connectivity reorganizes across stages remains poorly understood. In this study, we used high‐density electroencephalography (EEG) to characterize cortico‐cortical functional connectivity ...
Matteo Conti   +15 more
wiley   +1 more source

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