Results 1 to 10 of about 65,045 (260)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Measurement of residual stress in the brain

Journal of Biomechanical Engineering
ABSTRACT Mechanical stress in brain tissue is an important feature of the brain, likely to play key roles in brain development and brain injury. Here, we characterize residual stresses in grey matter and white matter from the deformed shape of tissue cylinders extracted from the brain using a biopsy needle and imaged with high ...
Ramin Balouchzadeh, Christopher D. Kroenke, Kara E. Garcia, Philip V. Bayly   +3 more
openaire   +3 more sources

Residual stresses and residual stress distributions in TiCN- and TiN-coated steels

Surface and Coatings Technology, 1988
X-ray diffraction is an important and well known tool for the non-destructive analysis of residual stresses especially in thin coatings. In this paper results are presented using X-ray diffraction for the analysis of residual stress states in CVD and PVD hard coatings.
T. Hirsch, P. Mayr
openaire   +1 more source

The Residual Stress in Thawing Soils

Canadian Geotechnical Journal, 1973
If a fine grained soil is thawed under undrained conditions, in general an effective stress exists in the soil skeleton. This effective stress is termed the residual stress. In ice-rich soil the residual stress may be zero, but various combinations of stress and thermal histories can result in significant residual stresses being generated upon thawing.
J.F. Nixon,, N.R. Morgenstern,
openaire   +1 more source

RESIDUAL STRESS

Journal of the American Society for Naval Engineers, 1937
In the November, 1936, issue of the Journal of the American Society of Naval Engineers, Mr. H. W. Hiemke in his article, “The Repair of Steel Castings,” referred briefly to the temperature‐time relationships which exist when stresses must be released in a welded structure, and mentioned that a study of the matter was being made at the Naval Engineering
openaire   +1 more source

Residual stresses in colloidal gels

Soft Matter, 2017
A combination of experiments and Brownian Dynamics (BD) simulations is utilized to examine internal stresses in colloidal gels brought to rest from steady shear at different shear rates.
Esmaeel Moghimi, Alan R. Jacob, George Petekidis   +2 more
openaire   +2 more sources

Residual Stresses

2013
Abstract Residual, or locked-in internal, stresses are regions of misfit within a metal part or assembly that can cause distortion and fracture just as can the more obvious applied, or service, stresses. This chapter describes the fundamental facts about residual stresses and discusses the basic mechanisms of residual stress formation ...
openaire   +1 more source