Results 201 to 210 of about 2,035,560 (322)

Phenotypic Changes in a Monocyte Cluster with High Interleukin‐1 Beta Expression during Long‐Term Anti‐CD20 Therapy

Annals of Neurology, EarlyView.
Graphical abstract illustrating the study design, experimental workflow, and key findings from single‐cell profiling of peripheral mononuclear cells in multiple sclerosis patients undergoing anti‐CD20 therapy, revealing disease‐ and treatment‐associated immune signatures.
Mie Waede, Christina Kingo, Karina Damsbo, Maiken Uhrbrand Joergensen, Mhaned Oubounyt, Morten Gjerstorff, Mads Thomassen, Jan Baumbach, Jesper B. Moeller, Maria L. Elkjaer, Zsolt Illes   +10 more
wiley   +1 more source

Brain Connectivity Yields Insights into the Pathogenesis of Epilepsy and Subtypes: Evidence from Mendelian Randomization Analysis. [PDF]

Health Data Sci
He Z, Tang S, Hu Y, Li Y, Liang J, Fang L, Li M, Chen Z, Zhou Y.   +8 more
europepmc   +1 more source

Brain morphology in juvenile myoclonic epilepsy and absence seizures

Acta Neurologica Scandinavica, 2016
K. M. Park, T. H. Kim, Y. H. Han, C. Mun, K. J. Shin, S. Ha, J. Park, S. E. Kim   +7 more
semanticscholar   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Potential for Therapeutic Alteration of the Underlying Biology of Epilepsy. [PDF]

Biomedicines
Sperling MR, Peters JM, Wu Q, Guignet M, White HS, Shih EK, Ngo LY, Carrazana E, Rabinowicz AL.   +8 more
europepmc   +1 more source

Cortical and subcortical brain alterations in Juvenile Absence Epilepsy

NeuroImage: Clinical, 2016
M. Tondelli, A. Vaudano, Andrea Ruggieri, S. Meletti   +3 more
semanticscholar   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Improving diagnostic accuracy of routine EEG for epilepsy using deep learning. [PDF]

Brain Commun
Lemoine É, Toffa D, Xu AQ, Tessier JD, Jemel M, Lesage F, Nguyen DK, Bou Assi E.   +7 more
europepmc   +1 more source

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Epilepsia, 2015
J. Larsen, K. Johannesen, J. Ek, Sha Tang, C. Marini, S. Blichfeldt, M. Kibaek, S. von Spiczak, S. Weckhuysen, M. Frangu, B. Neubauer, P. Uldall, P. Striano, F. Zara, R. Kleiss, M. Simpson, H. Muhle, M. Nikanorova, B. Jepsen, N. Tommerup, U. Stephani, R. Guerrini, M. Duno, H. Hjalgrim, D. Pal, I. Helbig, R. Møller   +26 more
semanticscholar   +1 more source