Results 171 to 180 of about 6,817,538 (200)

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

Do working length and proximal screw density influence the velocity of callus formation in distal tibia fractures treated with a medial bridge plate? [PDF]

open access: yesEur J Orthop Surg Traumatol
Gilli A   +6 more
europepmc   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li   +17 more
wiley   +1 more source

Associations Between Biomarkers of Alzheimer's Disease and Sleep in Cognitively Unimpaired Older Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter   +5 more
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo   +11 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

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

open access: yesArthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart   +5 more
wiley   +1 more source

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