SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
[Are we expecting too much from existing research ethics committees?] [PDF]
Homedes N, Ugalde A.
europepmc +1 more source
Ethical review of COVID-19 research in the Netherlands; a mixed-method evaluation among medical research ethics committees and investigators. [PDF]
IJkema R +3 more
europepmc +1 more source
Book review: 'university research ethics committees: their role, remit and conduct' and 'researchers and their "subjects": ethics, power, knowledge and consent' [PDF]
Dean, Hartley
core +1 more source
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
Regulatory, scientific, and ethical issues arising from institutional activity in one of the 90 Italian Research Ethics Committees. [PDF]
Benfatto G +3 more
europepmc +1 more source
Drip-Feeding: How the Pharmaceutical Industry Influences Research Ethics Committees [PDF]
Stephen Humphreys
openalex +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Experience of Research Ethics Committees in Africa during the COVID-19 Pandemic
Woldeamanuel Y +8 more
europepmc +1 more source
Correction to: Regulatory, scientific, and ethical issues arising from institutional activity in one of the 90 Italian Research Ethics Committees. [PDF]
Benfatto G +3 more
europepmc +1 more source

