Results 191 to 200 of about 920,407 (298)

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

SHIP-1 adapter functions mediate recruitment of FCRL1 to the BCR and inhibition of ERK. [PDF]

Immunohorizons
Wolfe MM, Tallon Arranz R, Zenni EL, Wilson TJ.   +3 more
europepmc   +1 more source

Horseheads Central School District and Horseheads Central School District Association of Administrators (HCSDAA) (1997) [PDF]

, 1997

core   +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

CCL8-dependent recruitment of natural killer cells enhances the antitumor activity of neoadjuvant chemotherapy in gastric cancer. [PDF]

Cancer Immunol Immunother
Wang Y, Gao P, Peng X, Wang Z, Wu M, Hao Z, Chen L, Qian Y, Wang B, Feng D, Zhang Y, Li J, Guo M, Ding J, Zhan X.   +14 more
europepmc   +1 more source

Horseheads Central School District and Horseheads Central School District Association of Administrators (2007) [PDF]

, 2007

core   +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

Cytoplasmic tail diversity determines the effector bias of the adhesion GPCR ADGRL2. [PDF]

Cell Chem Biol
Garbett KA, Zheng C, Drube J, Hoffmann C, Gurevich VV, Sando RC.   +5 more
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

Baseline characteristics of the SINgapore GERiatric Intervention Study to Reduce Cognitive Decline and Physical Frailty (SINGER) multidomain dementia prevention randomized controlled trial and insights from the recruitment process. [PDF]

Alzheimers Dement
Yap KH, Chen C, Chong EJY, Kandiah N, Kivipelto M, Lai MKP, Maier AB, Matchar DB, Phua AKS, Teo CKL, Xu X, Zhou HJ, Chen CPL.   +12 more
europepmc   +1 more source