Results 61 to 70 of about 2,160,111 (122)

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Selector for the Spectrum Award 2018

, 2018
Billingham was invited to be part of the selection panel for the first Spectrum Award in 2018 alongside Mark Wallinger, Charming Baker, Professor Simon Baron-Cohen, Sacha Craddock and Mary Simpson.
Billingham, Richard, Spectrum
core   +3 more sources

Upregulated pexophagy limits the capacity of selective autophagy

Nature Communications
Selective autophagy is an essential process to maintain cellular homeostasis through the constant recycling of damaged or superfluous components. Over a dozen selective autophagy pathways mediate the degradation of diverse cellular substrates, but ...
Kyla Germain, Raphaella W. L. So, Laura F. DiGiovanni, Joel C. Watts, Robert H. J. Bandsma, Peter K. Kim   +5 more
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Faces do not capture special attention in children with autism spectrum disorder: a change blindness study [PDF]

, 2009
Two experiments investigated attention of children with autism spectrum disorder (ASD) to faces and objects. In both experiments, children (7- to 15-year-olds) detected the difference between 2 visual scenes.
Hasegawa, T., Tojo, Y., Kikuchi, Y., Senju, Atsushi, Osanai, H.   +4 more
core   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Christoph Zellweger

, 2011
This book offers an essential reference for anyone interested in contemporary European jewellery design. Through guided conversations with the major designers of today, Roberta Bernabei reveals the creative, conceptual and technical working practices ...
Zellweger, Christoph
core   +6 more sources

Developmental associations between traits of autism spectrum disorder and attention-deficit/hyperactivity disorder: a genetically-informative, longitudinal twin study [PDF]

, 2013
Background - Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), and associated subclinical traits, regularly co-occur with one another. However, the aetiology of their co-occurrence remains poorly understood.
Ronald, Angelica, Charman, Tony; id_orcid, Plomin, R., Ronald, A, Charman, T., Happé, F, Asherson, P; id_orcid, Robinson, E.B., Asherson, P., Taylor, M J, Taylor, M.J., Plomin, R, Robinson, E B, Happé, F.   +13 more
core   +1 more source

Zellweger

Photograph of Lyodd Tharp.
Zellweger
core   +1 more source

Multiple Teeth Impaction in an Adult Patient Affected by Infantile Refsum Disease: A Case Report

Oral
Introduction: Infantile Refsum disease (IRD) is considered one of the milder phenotypes within the Zellweger Spectrum Disorders (ZSDs), a group of peroxisomal biogenesis disorders characterized by a generalized impairment of peroxisomal function ...
Edoardo Staderini, Gioele Gioco, Federica Guglielmi, Francesca Cazzato, Licia Leccese, Carmen Chiara Nacca, Patrizia Gallenzi   +6 more
doaj   +1 more source