Results 91 to 100 of about 6,751 (173)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta   +11 more
wiley   +1 more source

Resolving the inner <i>versus</i> outer component of the 5f radial wavefunction in the early actinides. [PDF]

open access: yesChem Sci
Alcock NM   +7 more
europepmc   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le   +9 more
wiley   +1 more source

Acute Endocrine Alterations After Traumatic Brain Injury and 6‐Month Functional Outcome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Acute multi‐axis endocrine alterations after traumatic brain injury (TBI) remain incompletely characterized. This study aimed to examine their temporal patterns and explore their associations with 6‐month functional outcome and early inflammatory markers.
Biao Xu   +9 more
wiley   +1 more source

Discordance Between Patient and Physician Global Assessments in Early Systemic Sclerosis

open access: yesArthritis Care &Research, EarlyView.
Objective This study aims to identify factors associated with patient global assessment (PtGA) and physician global assessment (PhGA) and discordance between them in systemic sclerosis (SSc). Methods Data from adults with early SSc (<5 years) from the Collaborative National Quality and Efficacy Registry were included.
Ellen Romich   +35 more
wiley   +1 more source

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