Results 291 to 300 of about 1,967,846 (356)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

Is histological grade a useful parameter in muscle-invasive urothelial bladder cancer? Results from a multicenter study on the impact of different grading systems on disease-free survival after upfront radical cystectomy. [PDF]

open access: yesWorld J Urol
Rinderknecht E   +23 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

Correlation analysis of invasive disease-free survival and overall survival in a real-world population of patients with HR+/HER2- early breast cancer. [PDF]

open access: yesCancer
Graff SL   +10 more
europepmc   +1 more source

Hospital Readmission After Traumatic Brain Injury Hospitalization in Community‐Dwelling Older Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the risk of hospital readmission after an index hospitalization for TBI in older adults. Methods Using data from the Atherosclerosis Risk in Communities (ARIC) study, we used propensity score matching of individuals with an index TBI‐related hospitalization to individuals with (1) non‐TBI hospitalizations (primary analysis)
Rachel Thomas   +7 more
wiley   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian   +9 more
wiley   +1 more source

Sex Hormones Associate With Amyotrophic Lateral Sclerosis Risk and Survival

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) risk differs by sex and age, implicating sex hormones as potential modifiers. This study examined plasma levels of biologically active sex hormones and their association with ALS odds and survival in cases (females n = 131, males n = 189) and controls (females n = 138, males n = 150) from the University of ...
Stephen A. Goutman   +5 more
wiley   +1 more source

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