Results 141 to 150 of about 127,002 (321)

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

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

CHIMERIC ANTISENSE OLIGONUCLEOTIDES OF ARABINOFURANOSE ANALOGUES AND DEOXYRIBOSE NUCLEOTIDES [PDF]

, 2003
The present invention relates to novel oligonucleotide chimera used as therapeutic agents to selectively prevent gene transcription and expression in a sequence-specific manner.

core  

Offline comprehensive liquid chromatography in combination with a Deoxyribonuclease I immobilized enzymatic reactor for selective screening of oligonucleotide mixtures [PDF]

, 2016
Alvarez Porebski, Piotr Wiktor, Lynen, Frederic   +1 more
core   +1 more source

Specific inhibition of epithelial Na⁺ channels by antisense oligonucleotides for the treatment of Na⁺ hyperabsorption in cystic fibrosis [PDF]

, 2009
Katja Sobczak, Andrei Segal, Nadine Bangel‐Ruland, Judith Semmler, Willy Van Driessche, H. Lindemann, Ralf Heermann, Wolf‐Michael Weber   +7 more
openalex   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Correction of Aberrant Splicing of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene by Antisense Oligonucleotides [PDF]

, 1999
Kenneth J. Friedman, Jolanta Kole, Jonathan Cohn, Michael R. Knowles, Lawrence M. Silverman, Ryszard Kole   +5 more
openalex   +1 more source

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Electrophysiological Changes in Pediatric Spinal Muscular Atrophy: Results From an Observational Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Previous studies of children with spinal muscular atrophy (SMA) have focused on the ulnar and median nerves, while lower‐limb and proximal motor nerves remain insufficiently characterized. This study aimed to evaluate compound muscle action potential (CMAP) amplitudes in upper‐ and lower‐limb motor nerves in children with SMA
Ruidi Sun, Jing Wang, Jie Han, Jun Jiang, Jiajun Wu, Xue Chen, Xiaolong Deng, Chunquan Cai, Dan Sun   +8 more
wiley   +1 more source

Antisense oligonucleotides to proliferating cell nuclear antigen and Ki-67 inhibit human mesangial cell proliferation. [PDF]

, 1996
Yohei Maeshima, Naoki Kashihara, Hitoshi Sugiyama, Hirofumi Makino, Zensuke Ota   +4 more
openalex   +1 more source