Results 311 to 320 of about 11,463,351 (406)

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks   +20 more
wiley   +1 more source

Associations of Cerebrospinal Fluid Orexin‐A, Alzheimer Disease Biomarkers, and Cognitive Performance

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACTObjectiveCerebrospinal fluid (CSF) orexin‐A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin‐A is positively associated with CSF Aβ42, p‐tau181, and total tau (t‐tau) concentrations.
Ruijin Lu   +13 more
wiley   +1 more source

Association between body weight and tocilizumab effectiveness in rheumatoid arthritis: results from the BSRBR-RA. [PDF]

open access: yesRheumatology (Oxford)
Tsoi MF   +6 more
europepmc   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron   +3 more
wiley   +1 more source

Determinants of child body weight categorization in parents and health care professionals: An experimental study. [PDF]

open access: yesBr J Health Psychol
Evans EH   +5 more
europepmc   +1 more source

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