Results 141 to 150 of about 22,189 (264)

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source

Non-Verbal Communication in Nursing Home Settings. [PDF]

Healthcare (Basel)
Khan Z, Da Silva MV, Kramarczyk D, Austbø LBH, Gjestsen MT, Testad I, Ballard C.   +6 more
europepmc   +1 more source

Lise Meitner [PDF]

Photoniques, 2014
openaire   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

Prevalence and characteristics of adults with atherosclerotic cardiovascular disease, chronic kidney disease, and systemic inflammation in the USA. [PDF]

Am Heart J Plus
Nanna MG, Sloan LA, Navar AM, Faurby MD, Husemoen LLN, Paul R, Tombak G, Sattar N.   +7 more
europepmc   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Detection of Anti-Infliximab and Anti-Adalimumab Antibodies Below Manufacture's Threshold in a TDM Cohort Using Signal-to-Noise Ratio. [PDF]

Basic Clin Pharmacol Toxicol
Pedersen L.
europepmc   +1 more source

Clinical significance of subclinical seizures in epilepsy presurgical evaluation: A systematic review and meta‐analysis

Epilepsia, EarlyView.
Abstract Objective Subclinical seizures (SCSs) remain an understudied aspect of presurgical evaluation in patients with drug‐resistant epilepsy (DRE), with uncertain prevalence, distribution among epilepsy types, and predictive value for surgical outcomes.
Pilar Bosque‐Varela, Panagiota‐Eleni Tsalouchidou, Petra Levicka, Lara Wadi, Elizabeth R. Blackwood, Eugen Trinka, Birgit Frauscher   +6 more
wiley   +1 more source

Correction to: Management and treatment of chronic kidney disease in the Danish Lolland-Falster Health Study: focus on renoprotection and cardiovascular disease prevention. [PDF]

Clin Kidney J
europepmc   +1 more source

Life-Threatening Radiation Necrosis After Complete Response to Pembrolizumab in a Patient With a Metastatic Silent PIT1 Pituitary Neuroendocrine Tumor (PitNET). [PDF]

J Immunother
De Alcubierre D, Feola T, Gianno F, Verrico M, Carbonara F, Venditti E, Isidori AM, Esposito V, Minniti G, Jaffrain-Rea ML.   +9 more
europepmc   +1 more source