Results 11 to 20 of about 272,493 (246)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Venetoclax‐Based Therapy as a Bridge to Hematopoietic Stem Cell Transplantation in Relapsed or Refractory Pediatric Acute Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Relapsed and/or refractory (R/R) pediatric acute leukemia carries a dismal prognosis, largely driven by chemoresistance to conventional salvage therapy. The BH3‐mimetic venetoclax, combined with chemotherapy or hypomethylating agents, has demonstrated efficacy in small clinical trials.
Katherine S. Colman, Deborah Meyran, Vajiranee Malalasekera, Heather Weerdenburg, Janine Campbell, Rachel Conyers, Stacie Wang, Hannah Walker, Seong Lin Khaw, Diane Hanna   +9 more
wiley   +1 more source

Sex- and age-related changes in neural dynamics during a Go/No-Go task with affective modulation

NeuroImage
Adolescence is a sensitive period of development wherein high-order cognitive brain networks undergo rapid maturation and refinement. In tandem, socially- and emotionally-salient cues, like affectively expressive faces, tend to increase in importance and
Sarah L. Greenwood, Haley R. Pulliam, Monica N. Clarke-Smith, Grace E. Parolek, Saige C. Rasmussen, OgheneTejiri V. Smith, Brittany K. Taylor   +6 more
doaj   +1 more source

Disturbances in primary visual processing as a function of healthy aging

NeuroImage, 2023
For decades, visual entrainment paradigms have been widely used to investigate basic visual processing in healthy individuals and those with neurological disorders.
Seth D. Springer, Tara D. Erker, Mikki Schantell, Hallie J. Johnson, Madelyn P. Willett, Hannah J. Okelberry, Maggie P. Rempe, Tony W. Wilson   +7 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Interactive effects of social media use and puberty on resting-state cortical activity and mental health symptoms

Developmental Cognitive Neuroscience
Adolescence is a period of profound biopsychosocial development, with pubertally-driven neural reorganization as social demands increase in peer contexts.
Nathan M. Petro, Giorgia Picci, Lauren K. Webert, Mikki Schantell, Jake J. Son, Thomas W. Ward, Kellen M. McDonald, Cooper L. Livermore, Abraham D. Killanin, Danielle L. Rice, Grace C. Ende, Anna T. Coutant, Erica L. Steiner, Tony W. Wilson   +13 more
doaj   +1 more source

Power training alters somatosensory cortical activity of youth with cerebral palsy

Annals of Clinical and Translational Neurology, 2022
Objective Our prior magnetoencephalographic (MEG) investigations demonstrate that persons with cerebral palsy (CP) have weaker somatosensory cortical activity than neurotypical (NT) controls, which is associated with reduced muscular strength and ...
Hannah Bergwell, Mike Trevarrow, Brad Corr, Sarah Baker, Heidi Reelfs, Tony W. Wilson, Noelle G. Moreau, Max J. Kurz   +7 more
doaj   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

Arthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale, Nuria E. J. Jansen, Christina Y. Le, Leo Lu, Hui Xie, Marienke van Middelkoop, Jackie L. Whittaker   +6 more
wiley   +1 more source