Results 281 to 290 of about 4,574,187 (367)

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

Women's health: an imAging-based cardiovascular risK-rEdUction Program (WAKE UP) study. Rationale and design. [PDF]

open access: yesFront Cardiovasc Med
Wasniewski S   +21 more
europepmc   +1 more source

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour   +6 more
wiley   +1 more source

Sometimes karyotype resolves the case!

open access: yesFrontiers in Genetics
Laura Rodríguez   +2 more
doaj   +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

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