Results 201 to 210 of about 955,827 (313)

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

Comparison of the Antithrombotic Strategy Implemented to Prevent Early Recurrence before Closure of Patent Foramen Ovale.

Cerebrovasc Dis
Gachignard M, Derimay F, Rioufol G, Thibault H, Rabilloud M, Cho TH, Mechtouff L, Derex L, Ong E, Fontaine J, Fleury Q, Pernot P, Rascle L, Clottes P.   +13 more
europepmc   +1 more source

Regrowth Patterns in Glioblastoma-Survival and Predictors. [PDF]

Cancer Med
Feldheim JA, Grieger J, Schmidt T, Oster C, Feldheim JJ, Wepner P, Hattingen E, Hagemann C, Sure U, Herrlinger U, Stuschke M, Scheffler B, Deuschl C, Kleinschnitz C, Lazaridis L, Kebir S, Schäfer N, Glas M.   +17 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

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

Recurrent phaeochromocytoma

Journal of British Surgery, 1970
R A, Sellwood, S, Wapnick, A, Breckenridge, E D, Williams, R B, Welbourn   +4 more
openaire   +2 more sources

Long-term outcomes following a 5-year recurrence-free interval in non-muscle-invasive bladder cancer. [PDF]

BJU Int
Hjort PB, Jensen JB, Ernst A.
europepmc   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Recurrent Pancreatitis [PDF]

Proceedings of the Royal Society of Medicine, 1973
openaire   +2 more sources

Defining the role of PET/CT in posttreatment surveillance for non-small cell lung cancer. [PDF]

J Thorac Dis
Fazzari FGT, Swaminath A.
europepmc   +1 more source