Results 211 to 220 of about 249,335 (265)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Velocity gauge for oscillator strength in ΔSCF theory. [PDF]

J Chem Phys
Shen Y, Fan Y, Yang W.
europepmc   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Exploring quantum annealing for coarse-grained protein folding. [PDF]

Sci Rep
Scheiber T, Heller M, Giebel A.
europepmc   +1 more source

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

Objective clustering protocol for single-molecule data: A lifetime vs. intensity study. [PDF]

Biophys Rep (N Y)
Lovemore MAC, van Heerden B, Botha JL, Krüger TPJ.   +3 more
europepmc   +1 more source

Leveraging Configuration Interaction Singles for Qualitative Descriptions of Ground and Excited States: State-Averaging, Linear-Response, and Spin-Projection. [PDF]

J Chem Theory Comput
Tsuchimochi T, Mokhtar B.
europepmc   +1 more source

Evidence for Photoinduced Polaron Generation in a High Persistence Length Low Bandgap Conjugated Polymer in Solution. [PDF]

J Phys Chem B
Azzouzi M, Rezasoltani E, Bird MJ, Coker JF, Frost JM, LeCroy GS, Parker AW, Sazanovich IV, Greetham GM, Towrie M, Virbule A, Vezie MS, Heracleous D, Bronstein H, Salleo A, Nelson J, Hayes SC.   +16 more
europepmc   +1 more source

Matrix-Product State Skeletons in Onsager-Integrable Quantum Chains. [PDF]

J Stat Phys
Camp I, Jones NG.
europepmc   +1 more source

Hot-Carrier Injection and Millisecond Charge Separation from a Robust Heteroleptic Iron(II) Chromophore Immobilized on TiO₂. [PDF]

J Am Chem Soc
Whittemore T, Schmalle M, Ryndin E, Spitler M, Brohmer EHP, Rau S, Zedler L, Danilov EO, Castellano FN, Kupfer S, Meyer G, Sorsche D.   +11 more
europepmc   +1 more source