Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Cultivating diversity and food quality. Proceedings of Diversifood EU Forum, Brussels, 11 April 2018 [PDF]
, 2018 To tackle this issue, Diversifood team organised a forum with policy makers and stakeholders on the 11th of April 2018, in Brussels. Diversifood’s aim is to share results and key lessons including new approaches for the management of cultivated ...
Bocci, R. +7 more
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
Building long-term vision for rural areas through multi-actor platforms: a preliminary study in the Emilia-Romagna region. [PDF]
Open Res Eur, 2021 Pellegrini E +3 more
europepmc +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Perceptions of Fairness of Support Between Older Parents and Adult Children
Social SciencesIncreased life expectancy and reduced fertility mean more generations are living simultaneously but with fewer members. There is also a growing group of older people (aged 80 and over) who need care and support.
Anna Willems +2 more
doaj +1 more source
Varieties of public-private policy coordination: How the political economy affects multi-actor implementation. [PDF]
Public Policy Adm, 2021 Trein P, Tosun J.
europepmc +1 more source
The value of theoretical multiplicity for steering transitions towards sustainability [PDF]
, 2009 Transition management, as a theory of directing structural societal changes towards sustainable system innovations, has become a major topic in scientific research over the last years.
Breeman, G.E. +4 more
core +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
A multi-actor, participatory approach to identify policy and technical barriers to better farming practices that protect our drinking water sources. [PDF]
Sci Total Environ, 2021 Campling P +23 more
europepmc +1 more source