Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
The benefits of utilisation computer system for monitoring the movements of excise (EMCS) [PDF]
Since 2009 - a new system will work fully computerized tracking of shipments to Romania for intra under suspension of excise goods: EMCS, the new system will record all economic validate who are entitled to send and receive excise goods within the EU. If
Popeangă, Vasile +3 more
core +1 more source
A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento +3 more
wiley +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
Blood plasma proteomic biomarkers for forecasting transition to psychosis in an Asian cohort. [PDF]
Transl PsychiatryChan WX +6 more
europepmc +1 more source
The Impact of Lithuania on EU Council Decision-Making [PDF]
Lithuanian Annual Strategic Review, 2008 Gediminas Vitkus +1 more
openaire +1 more source
Regulation of Renewable Resources in Federal Systems: The Case of Fishery in th EU [PDF]
The EU regulation of fisheries is decided in two levels. The level of the total allowable catch (TAC) for the most important species is decided every year by the Council of Minsters. The TACs are allocated to the Member States as quotas.
Frank Jensen, Niels Vestergaard
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
20 Years of EU health values (2006-2026): four proposals for the future. [PDF]
Lancet Reg Health EurFrischhut M +9 more
europepmc +1 more source