Results 161 to 170 of about 146,402 (261)

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

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

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

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

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

open access: yesArthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos   +2 more
wiley   +1 more source

Attack and defense networks in a student social system. [PDF]

open access: yesPLoS One
Morales-Huitrón A   +3 more
europepmc   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

open access: yesArthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa   +3 more
wiley   +1 more source

Determinants of Body Mass Index in Early Systemic Sclerosis: Implications for Nutritional Risk Stratification

open access: yesArthritis Care &Research, EarlyView.
Objective Gastrointestinal (GI) involvement can lead to malnutrition in patients with systemic sclerosis (SSc). Body mass index (BMI) remains the most widely used marker to screen nutritional status. We aimed to identify predictors of lower BMI in patients with SSc. Methods Patients with SSc from a prospective US cohort meeting 2013 American College of
Ali Y. Ayla   +8 more
wiley   +1 more source

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