Results 131 to 140 of about 312,132 (253)

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

Towards Completion of the "Periodic Table" of Di-2-Pyridyl Ketoxime. [PDF]

Molecules
Stamou C, Polyzou CD, Lada ZG, Konidaris KF, Perlepes SP.   +4 more
europepmc   +1 more source

PubChem Periodic Table and Element Pages: Improving Access to Information on Chemical Elements from Authoritative Sources. [PDF]

Chem Teach Int, 2021
Kim S, Gindulyte A, Zhang J, Thiessen PA, Bolton EE.   +4 more
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

Periodic Table of Immunomodulatory Elements and Derived Two-Dimensional Biomaterials. [PDF]

Adv Sci (Weinh)
Rafieerad A, Saleth LR, Khanahmadi S, Amiri A, Alagarsamy KN, Dhingra S.   +5 more
europepmc   +1 more source

Metals and non-metals in the periodic table. [PDF]

Philos Trans A Math Phys Eng Sci, 2020
Yao B, Kuznetsov VL, Xiao T, Slocombe DR, Rao CNR, Hensel F, Edwards PP.   +6 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Symbolism itself does not improve memory for elements on the periodic table. [PDF]

Sci Rep
Roberts BRT, Tran SHN, Fernandes MA.
europepmc   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Periodic Table Exploration of MXenes for Efficient Electrochemical Nitrate Reduction to Ammonia. [PDF]

Small
Nittoor-Veedu R, Ju X, Langer M, Gao W, Otyepka M, Pumera M.   +5 more
europepmc   +1 more source