Results 61 to 70 of about 48,638 (193)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 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

Deep Learning–Assisted Differentiation of Four Peripheral Neuropathies Using Corneal Confocal Microscopy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah, Ioannis N. Petropoulos, Mark Stettner, Maryam Ferdousi, Uazman Alam, Nathan Efron, Ahmed Serag, Rayaz A. Malik   +7 more
wiley   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Glymphatic Dysfunction Reflects Post‐Concussion Symptoms: Changes Within 1 Month and After 3 Months

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mild traumatic brain injury (mTBI) may alter glymphatic function; however, its progression and variability remain obscure. This study examined glymphatic function following mTBI within 1 month and after 3 months post‐injury to determine whether variations in glymphatic function are associated with post‐traumatic symptom severity ...
Eunkyung Kim, Han Gil Seo, Roh‐Eul Yoo, Byung‐Mo Oh   +3 more
wiley   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source