Results 101 to 110 of about 130,902 (295)

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

Measuring the Influence of Observations in HMMs through the Kullback-Leibler Distance

, 2012
We measure the influence of individual observations on the sequence of the hidden states of the Hidden Markov Model (HMM) by means of the Kullback-Leibler distance (KLD).
Nuel, Gregory, Perduca, Vittorio
core   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Generation and evaluation of a large mutational library from the Escherichia coli mechanosensitive channel of large conductance, MscL - Implications for channel gating and evolutionary design [PDF]

, 2003
Random mutagenesis of the mechanosensitive channel of large conductance (MscL) from Escherichia coli coupled with a high-throughput functional screen has provided new insights into channel structure and function.
Dougherty, Dennis A., Maurer, Joshua A.
core  

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Analysis of Design and Fabrication Parameters for Lensed Optical Fibers as Pertinent Probes for Sensing and Imaging

Sensors, 2018
A method for adjusting the working distance and spot size of a fiber probe while suppressing or enhancing the back-coupling to the lead-in fiber is presented.
Soongho Park, Sunghwan Rim, Ju Wan Kim, Jinho Park, Ik-Bu Sohn, Byeong Ha Lee   +5 more
doaj   +1 more source

SMOTE-LOF for noise identification in imbalanced data classification

Journal of King Saud University: Computer and Information Sciences, 2021
Asniar, N. Maulidevi, Kridanto Surendro
semanticscholar   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

PERTUMBUHAN DAN HASIL BAWANG MERAH (Allium ascalonicum L.) VARIETAS BIRU LANCOR DENGAN PEMBERIAN PUPUK ORGANIK CAIR VEG

Ziraa'ah: Majalah Ilmiah Pertanian
The continued increase in demand for shallots must be accompanied by efforts to increase production sustainably, one of which is by using environmentally friendly fertilizers, namely Veg liquid organic fertilizer (LOF).
Alvera Dewi N Prihatini, Fitri Hapipah, Penny Pujowati, Bambang Supriyanto, Suria Darma Idris   +4 more
doaj   +1 more source

Wnt/beta-catenin signaling controls development of the blood–brain barrier [PDF]

, 2009
The blood–brain barrier (BBB) is confined to the endothelium of brain capillaries and is indispensable for fluid homeostasis and neuronal function. In this study, we show that endothelial Wnt/beta-catenin (beta-cat) signaling regulates induction and ...
Babbage, Jane, Bangsow, Thorsten, Corada, Monica, Czupalla, Cathrin Jacqueline, Dejana, Elisabetta, Felici, Angelina, Fruttiger, Marcus, Gerhardt, Holger, Liebner, Stefan, Melchner, Harald von (Prof. Dr.), Plate, Karl H., Reis, Marco, Taddei, Andrea, Taketo, Makoto Mark, Wolburg, Hartwig   +14 more
core