Results 91 to 100 of about 18,287,180 (250)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Principles of New Developmentalism
Brazilian Journal of Political Economy, 2020 LUIZ CARLOS BRESSER-PEREIRA
doaj +1 more source
Maddening pre-service early childhood education and care through poetics: Dismantling epistemic injustice through mad autobiographical poetics. [PDF]
Contemp Issues Early Child, 2023 Davies AW.
europepmc +1 more source
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
O NOVO DESENVOLVIMENTISMO E A NOVA FACE DAS POLÍTICAS COMPENSATÓRIAS
Revista de Políticas Públicas, 2013 The work sets up the new face of compensatory policies in Brazil which, according to the ideals of the new developmentalism, broadens its range of extension, although it remains in their focused and minimalist dimensions.
Alba Tereza Barroso de Castro
doaj +2 more sources
The economics and the political economy of new-developmentalism
, 2017 This paper resumes new developmentalism – a theoretical framework being defined since the early 2000s to understand middle-income countries. It contains a political economy, the beginning of a microeconomics and a macroeconomics.
Bresser-Pereira, Luiz Carlos
core
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
Developmentalist Cities? Interrogating Urban Developmentalism in East Asia
Intro -- Developmentalist Cities?: Interrogating Urban Developmentalism in East Asia -- Copyright -- Contents -- About Developmentalist Cities? -- Acknowledgements -- List of Illustrations -- Notes on Contributors -- 1 Introduction: Interrogating Urban ...
Park, Bae-Gyoon., Doucette, Jamie.
core
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +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