Results 221 to 230 of about 5,900,600 (309)

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, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Study on the Oxidative Deterioration Process of Diesel Based on Dielectric Spectroscopy. [PDF]

ACS Omega
Yan H, Qian S, Zhao C, Gu K, Liu J, Guan L.   +5 more
europepmc   +1 more source

Spectrum [PDF]

Schweizerische Ärztezeitung, 2009
openaire   +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, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Correction for Ipoutcha et al., "A synthetic biology approach to assemble and reboot clinically relevant <i>Pseudomonas aeruginosa</i> tailed phages". [PDF]

Microbiol Spectr
Ipoutcha T, Racharaks R, Huttelmaier S, Wilson CJ, Ozer EA, Hartmann EM.   +5 more
europepmc   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Erratum for Hsu et al., "Evaluating the susceptibility of various common cell lines and assessing inactivation conditions to Mpox virus". [PDF]

Microbiol Spectr
Hsu S-C, Liu P-C, Tsai S-K, Chen A-Y, Tsai H-P, Sun J-R, Li T-Y, Hsieh P-Y, Yang J-Y, Chang T-Y.   +9 more
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Book Review: Fadiman, Anne. 1997. The Spirit Catches You and You Fall Down: A Hmong Child, Her American Doctors, and the Collision of Two Cultures. New York: Macmillan [PDF]

, 2015
Naas, James
core   +1 more source

Phase-Resolved Two-Dimensional Infrared Spectroscopy of Solution-Phase Vibrational Polaritons on Gold Antenna Meta-Surfaces. [PDF]

J Phys Chem Lett
Sufrin S, Cohn B, Chuntonov L.
europepmc   +1 more source