Results 251 to 260 of about 353,589 (332)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Systemic T Cell Receptor Profiling Reveals Adaptive Immune Activation and Potential Immune Signatures of Diagnosis and Brain Atrophy in Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy is increasingly associated with immune dysregulation and inflammation. The T cell receptor (TCR), a key mediator of adaptive immunity, shows repertoire alterations in various immune‐mediated diseases. The unique TCR sequence serves as a molecular barcode for T cells, and clonal expansion accompanied by reduced overall TCR ...
Yong‐Won Shin, Sang Bin Hong, Yong Woo Shin, Inpyeong Hwang, Jaeseong Oh, Jihyeon Choi, Narae Kim, Jangsup Moon, Keun‐Hwa Jung, Kyung‐Il Park, Ki‐Young Jung, Kon Chu, Sang Kun Lee   +12 more
wiley   +1 more source

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Harnessing non-Watson-Crick's base pairing to enhance CRISPR effectors cleavage activities and enable gene editing in mammalian cells. [PDF]

Proc Natl Acad Sci U S A
Gao S, Guan H, Bloomer H, Wich D, Song D, Khirallah J, Ye Z, Zhao Y, Chen M, Xu C, Liu L, Xu Q.   +11 more
europepmc   +1 more source

A 50-base-pair G liS-regulated Region in the Promoter of the Human Thymidine Kinase Gene and Its Binding to Factors

, 1995
Yong Kyu Kim, Kyu Seong Kim, Kyung Sook Park   +2 more
openalex   +1 more source

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan, Meeta Yadav, Sudeep Ghimire, Peter C. Lehman, Apurva J. Patel, Sydney Woods, Heena Olalde, Jemmie Hoang, Mishelle Paullus, Catherine Cherwin, Christine Gill, Tracey Cho, Ashutosh K. Mangalam   +12 more
wiley   +1 more source

The MMP‐9/TIMP‐1 Ratio and Concentrations of Osteopontin Are Elevated in Cerebrospinal Fluid of People With Multiple Sclerosis and Decrease After Autologous Hematopoietic Stem Cell Transplantation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic, Ida Erngren, Kim Kultima, Anders Larsson, Malin Müller, Anna Wiberg, Joachim Burman   +6 more
wiley   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Portable Low‐Field Magnetic Resonance Imaging in People With Human Immunodeficiency Virus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aging population of people with HIV (PWH) raises heightened concerns regarding accelerated aging and dementia. Portable, low‐field MRI (LF‐MRI) is an innovative technology that could enhance access and facilitate routine monitoring of PWH.
Annabel Sorby‐Adams, Malachi Keo, Jennifer Guo, Daire Daly, Richard Ahern, Kimon Zachary, Gregory Robbins, Rajesh T. Gandhi, Bragi Sveinsson, Adam de Havenon, Kevin N. Sheth, Otto Rapalino, Juan Eugenio Iglesias Gonzales, W. Taylor Kimberly, Shibani S. Mukerji   +14 more
wiley   +1 more source