Results 101 to 110 of about 94,605 (281)

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

602: Antisense oligonucleotide target site blockade of miR-145 binding selectively enhances CFTR correction in airway epithelial cells and nasal organoids

, 2021
Farruk M. Lutful Kabir, Zhouheng Liu, Jennifer M. Anderson, David J. Crossman, Saki Sasaki, Li Huang, Shanshan Guo, Jennifer S. Guimbellot, Sarah J. Rowe, William T. Harris   +9 more
openalex   +1 more source

A Phase 1, Randomized, Open‐Label, Parallel Group Study to Evaluate the Relative Bioavailability and Safety of Subcutaneous Bepirovirsen when Delivered from a Vial or Prefilled Syringe Fitted with a Safety Syringe Device in Healthy Adult Participants

Clinical Pharmacology in Drug Development, EarlyView.
Abstract Bepirovirsen, an antisense oligonucleotide in development for the treatment of chronic hepatitis B virus (HBV) infection, is administered from glass vials as a subcutaneous (SC) injection by healthcare professionals (HCPs). A ready‐to‐use prefilled syringe (PFS) assembled with a safety syringe device (SSD) has been developed to make ...
Amir S. Youssef, Poonam Shah, Maxwell Hu, Helene Plein, Abhishek Roy, Ravi Sharma, Sarah Mole, Magdalena Blazejczyk, Wendy Cross, Brian Spears, Samuel Pak, Rejbinder Kaur, Robert Elston, Dickens Theodore, Marjan Hezareh, Ahmed Nader   +15 more
wiley   +1 more source

An IQ Consortium Perspective on the FDA Guidance for Assessment of Pharmacokinetics in Participants With Impaired Renal Function

Clinical Pharmacology &Therapeutics, EarlyView.
The FDA published guidance on assessing pharmacokinetics (PK) in participants with impaired renal function in 2024. The IQ CPLG Organ Impairment Working Group summarized the industry’s perspective on this guidance by highlighting a few key updates in the 2024 guidance, including: (1) the recommendation of using estimated glomerular filtration rate ...
Yan Jin, Ashish Sharma, Mariam A. Ahmed, Sravanthi Cheeti, Ying Ou, Damayanthi Devineni, Yizhe Chen, Jitendra S. Kanodia, Yasmeen Abouelhassan, Nadia Noormohamed, Jin Zhou, Patrick Marroum, Vaishali Sahasrabudhe, Islam R. Younis   +13 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Smad7 Antisense Oligonucleotide-Based Therapy in Crohn's Disease: Is it Time to Re-Evaluate? [PDF]

, 2022
Giovanni Monteleone, Carmine Stolfi, Irene Marafini, Raja Atreya, Markus F. Neurath   +4 more
openalex   +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

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

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

The Evolution of Antisense Oligonucleotide Chemistry—A Personal Journey [PDF]

, 2021
Sudhir Agrawal
openalex   +1 more source