Results 171 to 180 of about 13,061,190 (344)

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew   +11 more
wiley   +1 more source

Estimating the Factor VIII-Equivalent Activity of Emicizumab Using Global Assays of Haemostasis. [PDF]

open access: yesHaemophilia
Kraemmer D   +6 more
europepmc   +1 more source

Functional Correction of Large Factor VIII Gene Chromosomal Inversions in Hemophilia A Patient-Derived iPSCs Using CRISPR-Cas9 [PDF]

open access: bronze, 2015
Chul‐Yong Park   +8 more
openalex   +1 more source

Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz   +25 more
wiley   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals 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   +3 more
wiley   +1 more source

Factor VIII brand and the incidence of factor VIII inhibitors in previously untreated UK children with severe hemophilia A, 2000-2011.

open access: yesBlood, 2014
P. Collins   +8 more
semanticscholar   +1 more source

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