Results 141 to 150 of about 299,479 (314)

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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Advances in PIWI-piRNA function in female reproduction in mammals

Acta Biochimica et Biophysica Sinica
PIWI-interacting RNAs (piRNAs), which associate with PIWI clade Argonaute proteins to form piRNA-induced silencing complexes (piRISCs) in germline cells, are responsible for maintaining genomic integrity and
Lv Xiaolong, Zhang Hongdao, Wu Ligang
doaj   +1 more source

Effects of insulin-like growth factor-1 on the <i>in vitro</i> maturation of canine oocytes

, 2017
Akane Sato, Borjigin Sarentonglaga, Kazuko Ogata, M. Yamaguchi, Asuka Hara, Khurchabiling Atchalalt, Naoko Sugane, Rika Fukumori, Yoshikazu Nagao   +8 more
openalex   +2 more sources

Somatic cell reprogramming for Parkinson's disease treatment

Ibrain, Volume 11, Issue 1, Page 59-73, Spring 2025.
The fundamental purpose of cell reprogramming to treat Parkinson's disease is to generate dopaminergic neurons (DAN) and do transplantation. There are two ways to accomplish this. One method is to induce cells into induced DA neurons (iDAN) directly or to induce cells into induced pluripotent stem cells and ultimately into iDAN in vitro. Another option
Xiaozhuo Li, Kevin Fang, Fengping Wang
wiley   +1 more source

The temperature of intracellular ice formation in mouse oocytes vs. the unfrozen fraction at that temperature

, 2007
P. Mazur, Irina L. Pinn, F.W. Kleinhans
openalex   +1 more source

M-phase promoting factor (MPF) and mitogen activated protein kinases (MAPK) activities of domestic cat oocytes matured in vitro and in vivo [PDF]

, 2004
This work was undertaken in order to examine M-phase promoting factor (MPF) and mitogen-activated protein kinases (MAPK) activities during meiotic progression of cat oocytes cultured in two different media for two different incubation times and ...
Bogliolo, Luisa, Bonelli, Piero, Ledda, Sergio, Leoni, Giovanni Giuseppe, Madau, Laura, Naitana, Salvatore, Pau, Salvatore, Santucciu, Cinzia, Zedda, Maria Teresa   +8 more
core  

Differential FSH exposure in preantral follicle culture has marked effects on folliculogenesis and oocyte developmental competence [PDF]

, 2004
I. Adriaens
openalex   +1 more source

A review of the impact of micro‐ and nanoplastics on female reproduction: What we know and gaps in knowledge

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Micro‐and nanoplastics (MNPs) are breakdown products of plastics, and humans are exposed to these particles through air, water, food, and soil. There is a growing concern that human exposure to MNPs negatively impacts health. In this review we will discuss the potential health impact of MNPs on ovarian function and the hypothalamic–pituitary ...
Sanchayana Raghuvir, Shawn Alex, Deborah Clegg   +2 more
wiley   +1 more source

Progesterone induces a rapid increase in [Ca2+]in of Xenopus laevis oocytes.

, 1980
Wyeth W. Wasserman, Lawrence H. Pinto, Clare M. O’Connor, L.Dennis Smith   +3 more
openalex   +2 more sources