Results 211 to 220 of about 2,790,995 (275)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

A modeling study of cool surfaces and outdoor workers productivity at San Francisco International Airport. [PDF]

PNAS Nexus
Alahmad B, Isachsen I, Alwadi Y, Taha H, Bernheim A, Cooke E, Wesley E, Kats G, Spengler JD.   +8 more
europepmc   +1 more source

Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome

Epilepsia, EarlyView.
Overview of the phase 3 trial evaluating soticlestat as adjunctive therapy in children and young adults with Dravet syndrome. Abstract Objective This study evaluated the efficacy, safety, and tolerability of soticlestat as adjunctive therapy in children and young adults with Dravet syndrome (DS).
Joseph Sullivan, Kette Valente, Vicente Villanueva, Adam Strzelczyk, Rima Nabbout, Eiji Nakagawa, Yuehua Zhang, Marta Zolnowska, Yasir Khan, Cheng Dong, Samuel Hsiao, Sarah I. Sheikh, Philipp von Rosenstiel, Mahnaz Asgharnejad, Venkatesha Murthy   +14 more
wiley   +1 more source

Increased vulnerability to psychological distress and suicidal ideation among transgender women with self-reported disabilities in San Francisco, California. [PDF]

Prev Med Rep
Shafie A, Salvatore A, Shea R, Yu E, Ozyucel O, Akbar A, Suprasert B, Wilson EC, McFarland W, Taylor KD, Arayasirikul S.   +10 more
europepmc   +1 more source

Long‐term safety of early discontinuation of antiseizure medication after resolution of acute provoked neonatal seizures

Epilepsia, EarlyView.
Abstract Objective To assess long‐term safety of antiseizure medication (ASM) discontinuation after resolution of acute provoked neonatal seizures and prior to hospital discharge. Methods Prospective, observational, comparative effectiveness cohort study of neonates with acute provoked seizures born from July 2015 to March 2018, and followed until ...
Hannah C. Glass, Adam L. Numis, Janet S. Soul, Courtney J. Wusthoff, Monica E. Lemmon, Catherine J. Chu, Shavonne L. Massey, Cameron Thomas, Tayyba Anwar, Madison M. Berl, Jennifer G. Larson, Julie Sturza, Dana Annis, Elizabeth E. Rogers, Linda S. Franck, Charles E. McCulloch, Renée A. Shellhaas   +16 more
wiley   +1 more source

Astellas Shutting Gene Therapy Facility in South San Francisco, CA. [PDF]

Hum Gene Ther
Philippidis A.
europepmc   +1 more source

Thalamic connectivity mirrors spatial maps of network dysfunction in nonlesional focal epilepsy

Epilepsia, EarlyView.
Abstract Objective Focal epilepsy is increasingly conceptualized as a network disorder, yet the extent to which network dysfunction reflects a shared phenotype remains unknown. Spatially conserved patterns of network dysfunction may implicate a centralized mechanism underlying widespread impairment.
Joline M. Fan, Ehsan Tadayon, Kiwamu Kudo, Kamalini G. Ranasinghe, Anne M. Findlay, Robert C. Knowlton, Vikram R. Rao, Srikantan S. Nagarajan   +7 more
wiley   +1 more source

Cells and the city: The rise and fall of urban biopolitics in San Francisco, 1970-2020. [PDF]

Soc Stud Sci
Murray A, Browe D, Darling KW, Reardon J.   +3 more
europepmc   +1 more source

Practical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach

Epilepsia Open, EarlyView.
Abstract Objectives Dravet syndrome (DS) is a drug‐resistant developmental and epileptic encephalopathy, often requiring three or more antiseizure medications (ASMs). Consequently, the therapeutic landscape is highly complex, combining DS‐specific agents (stiripentol, STP; cannabidiol, CBD; fenfluramine, FFA), non‐specific ASMs, and non‐pharmacologic ...
J. Helen Cross, Rima Nabbout, Barry Gidal, Joseph Sullivan, Elaine Wirrell   +4 more
wiley   +1 more source

Evaluation of Modeling Assumptions for Predicting Structural Damage and Train Derailment Under Earthquake Loading

Earthquake Engineering &Structural Dynamics, EarlyView.
ABSTRACT The rapid development of new railway networks and the aging of existing infrastructure in seismic‐prone regions continue to motivate the need for efficient methods to simulate the dynamic behavior of coupled train track structure systems. While detailed train–structure interaction (TSI) models can capture complex mechanisms, they are often too
Miguel A. Gomez, Matthew J. DeJong
wiley   +1 more source