Results 301 to 310 of about 14,054,010 (381)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

On Social Class, Anno 2014

open access: yes, 2015
Mike Savage   +7 more
semanticscholar   +1 more source

3D MRI Tract‐Specific Spinal Cord Lesion Pattern Improves Prediction of Distinct Neurological Recovery

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To distinguish lateralized motor‐ and sensory‐tract damage after acute spinal cord injury (SCI) and explore its predictive power for motor and sensory recovery. Methods Thirty‐five SCI patients (two female) from a multi‐center data set (placebo‐arm of the Nogo‐A‐Inhibition in SCI trial) underwent routine T2‐weighted sagittal MRI ...
Lynn Farner   +7 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis as a Multistep Process in the United States: A Population‐Based Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease that typically results in death within 3–5 years from symptom onset. However, little is known about the environmental exposures, clinical aspects, or social determinants of health factors that may be associated with the disease.
Jasmine Berry   +7 more
wiley   +1 more source

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre   +152 more
wiley   +1 more source

The Diagnostic Value of Visual Evoked Potentials in Chronic Disorders of Consciousness

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In chronic disorders of consciousness (DOCs), the distinction between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) is as crucial as it is challenging. Evoked potentials (EPs) and event‐related potentials (ERPs) are helpful, but some limitations prevent their consistent use in the ...
Letizia Clementi   +14 more
wiley   +1 more source

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