Results 191 to 200 of about 100,639 (379)

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

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen   +47 more
wiley   +1 more source

The MSA Atrophy Index (MSA‐AI): An Imaging Marker for Diagnosis and Clinical Progression in Multiple System Atrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo   +11 more
wiley   +1 more source

INFLUENCE of Various Drugs on the Threshold for Electrical Convulsions [PDF]

open access: bronze, 1944
M. L. Tainter   +7 more
openalex   +1 more source

Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang   +5 more
wiley   +1 more source

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