Results 51 to 60 of about 24,478,248 (209)

Oculomotor abnormalities in children with Niemann-Pick type C [PDF]

Molecular Genetics and Metabolism, 2018
Niemann-Pick type C (NP-C) is a rare recessive disorder associated with progressive supranuclear gaze palsy. Degeneration occurs initially for vertical saccades and later for horizontal saccades. There are studies of oculomotor degeneration in adult NP-C patients [1, 2] but no comparable studies in children.
James Blundell, Steven Frisson, Anupam Chakrapani, Paul Gissen, Chris Hendriksz, Suresh Vijay, Andrew Olson   +6 more
openaire   +3 more sources

First person – Jorge Rodriguez-Gil

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research

Yeast, EarlyView.
ABSTRACT The knockout strain collection of Saccharomyces cerevisiae has served as a valuable resource for functional genomics and yeast‐based biotechnology studies. A comprehensive single‐gene knockout strain collection, covering nearly all non‐essential genes, together with complementary mutant collections for essential genes, including temperature ...
Takashi Hirasawa
wiley   +1 more source

Neuroimaging Findings in a Brain With Niemann–Pick Type C Disease

Journal of the Formosan Medical Association, 2011
Niemann-Pick type C disease (NPC) is a rare autosomal recessive lipid storage disorder caused by impaired cellular functions in processing and transporting low-density lipoprotein-cholesterol.
Jei-Yie Huang, Sing-Fung Peng, Chih-Chao Yang, Kuo-Yang Yen, Kai-Yuan Tzen, Ruoh-Fang Yen   +5 more
doaj   +1 more source

Dyslipidaemia, Chronic Kidney Disease and Diabetes Mellitus: A Triple Threat to Cardiovascular Health

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Diabetes mellitus (DM) and chronic kidney disease (CKD) frequently coexist and together create a ‘triple threat’ with dyslipidaemia, enhancing the risk for cardiovascular morbidity and mortality. Diabetic kidney disease (DKD) leads to altered lipid metabolism through insulin resistance, inflammation and oxidative stress resulting in an ...
Ann S. Forrest, Priyanka Majety, Stéphanie B. Mayer, Om P. Ganda   +3 more
wiley   +1 more source

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Journal of Rare Diseases
Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with a relentless
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl   +6 more
doaj   +1 more source

Preinatal Types of Niemann-Pick disease type C [PDF]

, 2015
How to Cite This Article:Alaei MR. Preinatal Types of Niemann-Pick disease type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 12.Pls see Pdf.
ALAEI, Mohammad Reza
core   +1 more source

The Narrative Continent: Discursive Recognition and the EU's Technological Actorness

JCMS: Journal of Common Market Studies, EarlyView.
Abstract Recognition in global politics is not only earned through institutions or capabilities; it is narrated into being. This article investigates how the European Union (EU) is framed as a technological actor in global discourse, focusing on the symbolic dynamics of discursive recognition.
Mahmoud Javadi
wiley   +1 more source

Bidirectional links between Alzheimer's disease and Niemann–Pick type C disease

Neurobiology of Disease, 2014
Alzheimer's disease (AD) and Niemann–Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Martina Malnar, Silva Hecimovic, Niklas Mattsson, Henrik Zetterberg   +3 more
doaj   +1 more source

Shaping Global AI Governance? Assessing EU Actorness in the Negotiations of the Council of Europe's AI Framework Convention

JCMS: Journal of Common Market Studies, EarlyView.
Abstract International organisations (IOs) have increasingly engaged in the governance of AI to address potential risks. Soon after the European Union (EU) adopted its Artificial Intelligence Act (AIA), the Council of Europe (CoE) adopted its Framework Convention on Artificial Intelligence and Human Rights, Democracy and the Rule of Law, the ‘first ...
Sina Hoch
wiley   +1 more source