Results 221 to 230 of about 2,571,116 (290)

Use of RWD in the assessment of economic evaluations of innovative health products: lessons learned from the French National Authority for health (HAS). [PDF]

Int J Technol Assess Health Care
Ghabri S, Sion M.
europepmc   +1 more source

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

Understanding real work situations to determine sprayer design occupational and environmental health criteria: a mixed methods study protocol. [PDF]

BMC Public Health
Jolly C, Aubert-Simard A, Burlet-Vienney D, Beauregard N, Feillou I, Godbout S, Albert M.   +6 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

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

An updated framework for task shifting and sharing: refining the SHIFT-SHARE based on stakeholder feedback from India. [PDF]

J Glob Health
Das S, Grant L, Fearon D, Weller D.
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

Research Trends and Insights Regarding MicroRNAs in Psoriasis: A Comprehensive Analysis. [PDF]

Cureus
Örs I, Cosansu NC, Solak B.
europepmc   +1 more source

Reply to Cecchi and Palminteri: On the need to model temporal variation in learning rates. [PDF]

Proc Natl Acad Sci U S A
Godara P.
europepmc   +1 more source

Natural Language Processing for Automated Extraction of Continuous Glucose Monitoring Data. [PDF]

Diabetes Care
Zheng Y, Song Y, Iturrate E, Wu B, Zweig S, Johnson SB.   +5 more
europepmc   +1 more source