Results 211 to 220 of about 147,072 (297)

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

Research on the water migration law in ion-adsorbed rare earth ores based on the high-density resistivity method. [PDF]

Sci Rep
Li G, Huang K, Wang H, Wang X, Zou Z, Lu J, Zhou L, Xiao F.   +7 more
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

Tectonism rather than "snowball Earth" glaciation is responsible for the Great Unconformity. [PDF]

Proc Natl Acad Sci U S A
Zhan RR, Duan L, Zattin M, Christie-Blick N, Wan B, Wei RH, Yang Z, Wang J, Gou L, Olivetti V, Chen KY, Zhang X.   +11 more
europepmc   +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

The complete genome sequences of 73 species of Anseriformes (Aves, Chordata). [PDF]

Biodivers Genomes
Griffith E, Pirro S.
europepmc   +1 more source

Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock, Jin Nakahara, Becky Parks, Kerstin Allen, Sami Fam   +4 more
wiley   +1 more source

Zn-flux-enabled synthesis of orthorhombic kagome YbFe₆Ge₆: Yb reduction and magnetic behavior.

Chem Commun (Camb)
Meduri R, Wilkinson GR, Idrees MZ, Wei K, Stoian SA, La Pierre HS, McCandless GT, Chan JY.   +7 more
europepmc   +1 more source

Accelerated north-east shift of the global green wave trajectory. [PDF]

Proc Natl Acad Sci U S A
Mahecha MD, Kraemer G, Reinhardt M, Montero D, Gans F, Bastos A, Feilhauer H, Flik I, Ji C, Kattenborn T, Migliavacca M, Mönks M, Quaas J, Sippel S, Walther S, Wieneke S, Wirth C, Camps-Valls G.   +17 more
europepmc   +1 more source

Grenvillian Tectonomagmatic Evolution Of Southwestern Laurentia; Virtual Tour Of Multidimensional Orders Of Scale; Two Methods To Describe The Vastness Of Time; Math Concepts Utilizing Google Earth; Systematic Approach To Motion Analyses; Mathematics And Earth Science-Based Knowledge And Learning

, 2018
Anthony M. Alvarez
openalex   +1 more source