Results 201 to 210 of about 12,143,613 (336)

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

The Meaning in Life Questionnaire: Assessing the Presence of and Search for Meaning in Life

, 2006
M. Steger, P. Frazier, S. Oishi, M. Kaler   +3 more
semanticscholar   +1 more source

Exercise-induced atrioventricular block in a patient with a pacemaker: a functional consequence of AV search algorithms-a case report. [PDF]

Eur Heart J Case Rep
Nuevo-Gallardo C, Rojo-Pérez JM, Doncel-Vecino LJ, Muñoz-Santos L, Chacón-Piñero A.   +4 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

Spatial Learning in Naturalistic Search With Simulated Vision Loss. [PDF]

Transl Vis Sci Technol
Veerkamp K, Müller D, Olivers CNL, Mann DL.   +3 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

Effects of Peri-Operative Glucocorticoids in Hip Fracture Patients on Post-Operative Outcomes: Systematic Review Protocol. [PDF]

Acta Anaesthesiol Scand
Hansen CL, Vester-Andersen M, Møller AM, Overgaard S, Foss NB, Hägi-Pedersen D.   +5 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

Detecting influenza epidemics using search engine query data

Nature, 2009
Jeremy Ginsberg, Matthew H. Mohebbi, Rajan Patel, Lynnette Brammer, M. Smolinski, L. Brilliant   +5 more
semanticscholar   +1 more source

CO₂ Laser Popularity in Germany: A Five-Year Google Trends Analysis (2020-2025).

JMIR Med Inform
Kirchberger MC, Eisenried A.
europepmc   +1 more source