Results 191 to 200 of about 1,284,538 (295)

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

Annals 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, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Genetic Risk and Transition Through Preclinical Stages of Type 1 Diabetes. [PDF]

J Clin Endocrinol Metab
Steck AK, Parikh HM, Triolo TM, Ferrat L, You L, Gottlieb PA, Oram RA, Onengut-Gumuscu S, Krischer JP, Rich SS, Redondo MJ.   +10 more
europepmc   +1 more source

Use of Symptomatic Drug Treatment for Fatigue in Multiple Sclerosis and Patterns of Work Loss

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To describe the use of central stimulants and amantadine for fatigue in MS and evaluate a potential association with reduced work loss in people with MS. Methods We conducted a nationwide, matched, register‐based cohort study in Sweden (2006 to 2023) using national registers with prospective data collection.
Simon Englund, Johan Reutfors, Thomas Frisell, Fredrik Piehl   +3 more
wiley   +1 more source

Priapism: A rare presentation of precursor B-Cell acute lymphoblastic leukemia

The Turkish Journal of Pediatrics, 2019
Zeliha Güzelküçük, Dilek Kaçar, Rabia Demir, Meltem Kürtül, Hüsniye Neşe Yaralı, Namık Yaşar Özbek   +5 more
doaj   +1 more source

Congruence Between Child Self-Reported and Caregiver-Proxy-Reported Health-Related Quality of Life in Children With Juvenile Idiopathic Arthritis and Systemic Lupus Erythematosus. [PDF]

J Rheumatol
Chan YN, Ardalan K, Lin L, Chen D, Weitzman ER, Dedeoglu F, Vehe RK, von Scheven E, Kimura Y, Schanberg LE, Reeve BB, CARRA Registry Investigators .   +11 more
europepmc   +1 more source

Will Memantine Exacerbate Seizures in People With Epilepsy? A Prospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate whether add‐on memantine would exacerbate seizures in people with epilepsy. Methods This was a prospective cohort study. People with epilepsy diagnosed with cognitive impairment were consecutively invited. Those who agreed were followed up for at least 24 weeks.
Peiyu Wang, Lu Lu, Hui Gao, Qi Zhang, Jing Xiao, Josemir W. Sander, Weixi Xiong, Dong Zhou   +7 more
wiley   +1 more source

Parental socioeconomic status and other sociodemographic determinants of health disparities among children and adolescents in Austria. [PDF]

Public Health Pract (Oxf)
Dozler M, Berger M, Mayer S.
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals 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, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

The emerging role of clinimetrics in pediatric rheumatology. [PDF]

Pediatr Rheumatol Online J
Anton J, Ravelli A.
europepmc   +1 more source