Results 231 to 240 of about 482,148 (298)

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

A neuropsychological perspective on sensory hypersensitivity after acquired brain injury. [PDF]

Brain Commun
Heijman JO, Marzolla MC, Thielen H, Spielmann K, Königs M, Gillebert CR, van Heugten CM, van der Stoep N, Huenges Wajer IMC.   +8 more
europepmc   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

Threshold-Dependent Discordance Between STRATIFY JCV™ and IMMUNOWELL™ Assays in Relapsing Multiple Sclerosis. [PDF]

Neurol Ther
Chisari CG, Crimì P, Spampinato G, Ferraro E, Alecci A, Lo Fermo S, Cimino V, Zappia M, Patti F.   +8 more
europepmc   +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

Letter to editor re: "Stimulation selectivity in transcranial motor evoked potentials for monitoring during surgery for supratentorial lesions". [PDF]

Clin Neurophysiol Pract
Silverstein JW, Matchanov O, Park J, Eichberg DG, Ellis JA, D'Amico RS.   +5 more
europepmc   +1 more source

A Guide to Structureless Visual Localization. [PDF]

Int J Comput Vis
Panek V, Zhou Q, Ding Y, Agostinho S, Kukelova Z, Sattler T, Leal-Taixé L.   +6 more
europepmc   +1 more source

Effects of Selective Sphingosine-1-Phosphate Receptor 1 Agonist, TRV045, on Evoked Pain Tests: An Exploratory, Four-Way Cross-Over Study in Healthy Volunteers. [PDF]

Eur J Pain
Bakker WA, Eijsvogel P, Klaassen ES, Kim J, Chen R, Demitrack MA, Dahan A, Niesters M, Hijma HJ, Groeneveld GJ.   +9 more
europepmc   +1 more source

Linking Minimally Important Differences (MID) and Acceptable Regret to Elicit Values and Preferences in Health Decision Models. [PDF]

J Eval Clin Pract
Djulbegovic B, Hozo I, Guyatt G.
europepmc   +1 more source