Results 211 to 220 of about 5,916,385 (282)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß   +22 more
wiley   +1 more source

Altercentrism and a change in perspective on the self: The relationships of visuospatial perspective-taking with rumination and mindfulness. [PDF]

open access: yesPLoS One
Conson M   +8 more
europepmc   +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

Parkinson Disease Subtype Stability and Eventual Convergence

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok   +10 more
wiley   +1 more source

How to eliminate (and even reverse) egocentric bias in perspective taking. [PDF]

open access: yesQ J Exp Psychol (Hove)
Samuel S   +3 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

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