Results 51 to 60 of about 462,231 (314)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Some remarks on the damage unilateral effect modelling for microcracked materials [PDF]
This study deals with the macroscopic modelling of the mechanical behaviour of microcracked materials and particularly with the unilateral aspect of such damage which leads, at the closure of microcracks, to a partial damage deactivation.
Welemane, Hélène, Cormery, Fabrice
core
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
Shifting attention in viewer- and object-based reference frames after unilateral brain injury [PDF]
The aims of the present study were to investigate the respective roles that object- and viewer-based reference frames play in reorienting visual attention, and to assess their influence after unilateral brain injury.
List, Alexandra +21 more
core +1 more source
Prevalence of keratoconus in candidates for refractive surgical procedures [PDF]
Introduction. Keratoconus is the most common primary ectasia and has a significant effect on visual acuity and the quality of life. The prevalence of keratoconus in the general population of Bosnia & Herzegovina, and Croatia remains unknown.
Kozomara Bojan +5 more
doaj
SPG4 and Dementia: Expanding the Clinical Spectrum
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
Carbon leakage revisited : unilateral climate policy under directed technical change [PDF]
Paper presented at the 14th Annual Conference of the European Association of Environmental and Resource Economists, Bremen, Germany 23 - 26 June 2005This paper analyzes the consequences of unilateral climate policy in the presence of directed technical ...
Di Maria, Corrado, Valente, Simone
core
Unilateral West Bank Annexation by Israel: A Hazardous Voyage [PDF]
The authors explain why unilateral annexation of the West Bank by Israel would have pernicious and lasting consequences, leading Israel to an unprecedented crisis of delegitimization, enhanced demonization and ...
Cohen, Daniel, Sher, Gilead
core +1 more source

