Results 51 to 60 of about 27,331 (253)
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
, 2019 The paper charts certain nuances of the diction of two minor characters in Dickens’s early fiction, Sam Weller from The Pickwick Papers and Mrs Nickleby from Nicholas Nickleby. The paper focuses on what David Ellis calls Sam’s “extended comic comparisons”
Sánta, Balázs
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Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
, 2008 This trail at the park allows visitors the opportunity to walk the outline of the redoubt to get an idea of the size and shape of the structure.Original file name Fort Nonsense 3 ...
Beards, Daniel E.
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The Metaphysical Subject and Logical Space: Solipsism and Singularity in the Tractatus
Open Philosophy, 2018 This essay presents a heterodox reading of the issue of solipsism in Wittgenstein’s Tractatus Logico-Philosophicus (TLP), out of which the whole of the TLP can be re-read.
Allen M. Curtis
doaj +1 more source
Corela, 2012 This paper examines the question of nonsense through a series of examples taken from Flann O’Brien’s satirical novels. Starting from Wittgenstein’s claim in the Tractatus that any reflexive discourse on language is itself nonsensical and that nonsense ...
Flore Coulouma
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
ELOPE, 2008 This paper focuses on the nature and impact of bilingual upbringing on cognitive development, thought and cultural experience of two bestselling authors, Roald Dahl and Theodor Seuss Geisel (Dr. Seuss).
Ivana Marinić, Željka Nemet
doaj +1 more source
, 2015 The essay explores Lear’s contribution to the Victorian aesthetic debate, characterized by a marked resistance to the literary use of sensation (epitomised in Wilkie Collins’ fiction), and in which, according to Bourdieau and to many critics after him ...
Antinucci, Raffaella
core +1 more source