Results 141 to 150 of about 2,833,564 (310)

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Predictors of longitudinal seizure outcomes after epilepsy surgery in childhood

, 2022
Amy Ka, Amir Taher, Stephanie D’Souza, Elizabeth H Barnes, Sachin Gupta, Christopher Troedson, Fiona Wade, Olga Teo, Russell C. Dale, Chong Wong, Andrew Bleasel, Mark Dexter, Kavitha Kothur, Deepak Gill   +13 more
openalex   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Barriers to epilepsy surgery in pediatric patients: A scoping review [PDF]

, 2022
Rami Hatoum, Nabil Nathoo-Khedri, Nathan A. Shlobin, Andrew Wang, Alexander G. Weil, Aria Fallah   +5 more
openalex   +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

Visible‐Light‐Driven Aqueous Polymerization Enables in Situ Formation of Biocompatible, High‐Performance Organic Mixed Conductors for Bioelectronics

Angewandte Chemie, EarlyView.
Visible‐light‐driven, initiator‐free aqueous photopolymerization of a PEDOT (poly(3,4‐ethylenedioxythiophene)) analogue precursor yields biocompatible, state‐of‐the‐art organic mixed ionic–electronic conductor, enabling direct fabrication of high‐performance bioelectronic devices without the use of harmful oxidants. Abstract Polymer‐based organic mixed
Tobias Abrahamsson, Fredrik Ek, Rémy Cornuéjols, Donghak Byun, Marios Savvakis, Cecilia Bruschi, Ihor Sahalianov, Eva Miglbauer, Chiara Musumeci, Mary J. Donahue, Ioannis Petsagkourakis, Maciej Gryszel, Martin Hjort, Jennifer Y. Gerasimov, Glib Baryshnikov, Renee Kroon, Daniel T. Simon, Magnus Berggren, Ilke Uguz, Roger Olsson, Xenofon Strakosas   +20 more
wiley   +2 more sources

Identification of serum biomarkers for evaluating seizure outcome after resective epilepsy surgery

, 2020

openalex   +1 more source

Reoperation after failed resective epilepsy surgery [PDF]

, 2013
Rainer Surges, Christian E. Elger
openalex   +1 more source

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source

Back Again to the Future: A New Era for Cerebroprotection

Annals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source