Results 111 to 120 of about 140,852 (310)
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Emergency relief venting of the infrared telescope liquid helium dewar [PDF]
An analysis is made of the emergency relief venting of the liquid helium dewar of the Spacelab 2 infrared telescope experiment in the event of a massive failure of the dewar guard vacuum. Such a failure, resulting from a major accident, could cause rapid
Urban, E. W.
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano +11 more
wiley +1 more source
Determining the venting efficiency of simple chimneys for buoyant plumes [PDF]
, 2017 We present preliminary results from an examination of the capture and venting of a buoyant plume by a chimney. The aim is to enable improved management of indoor pollutant sources – for instance, the plume rising from a cooking pan in a kitchen or a ...
Burridge, HC +3 more
core
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
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Analysis of a space emergency ammonia dump using the FLOW-NET two-phase flow program [PDF]
Venting of cryogenic and non-cryogenic fluids to a vacuum or a very low pressure will take place in many space-based systems that are currently being designed.
Navickas, J., Rivard, W. C.
core +1 more source
Passive venting technique for shallow cavities [PDF]
, 1989 A device is introduced for reducing drag and store separation difficulties caused by shallow cavities on aircraft in supersonic flight consisting of a group of hollow pipes the same length as the cavity.
Stallings, Robert L., Jr. +1 more
core +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