Results 141 to 150 of about 4,649,293 (309)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

Higher Amyloid and Tau Burden Is Associated With Faster Decline on a Digital Cognitive Test

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A 2‐min digital clock‐drawing test (DCTclock) captures more granular features of the clock‐drawing process than the pencil‐and‐paper clock‐drawing test, revealing more subtle deficits at the preclinical stage of Alzheimer's disease (AD). A previous cross‐sectional study demonstrated that worse DCTclock performance was associated with
Jessie Fanglu Fu, Talia Robinson, Marina Rodriguez Alonso, Adela Francis Malave, Roos J. Jutten, Michael J. Properzi, Brian C. Healy, Jackson C. Thompson, Grace Del Carmen Montenegro, Emma Thibault, Dana Penney, Randall Davis, Reisa A. Sperling, Kathryn V. Papp, Keith A. Johnson, Julie C. Price, Dorene M. Rentz   +16 more
wiley   +1 more source

Frailty Exacerbates Disability in Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks, Anna Wolska, Diala Ghazal, Dejan Jakimovski, Bianca Weinstock‐Guttman, Alexander Burnham, Niels Bergsland, Michael G. Dwyer, Alan T. Remaley, Robert Zivadinov, Murali Ramanathan   +10 more
wiley   +1 more source

Key Transmission Section Search Based on Graph Theory and PMU Data for Vulnerable Line Identification in Power System [PDF]

, 2023
Miao Yu, Shouzhi Zhang, Fang Shi, Jianqun Sun, Jingjing Wei, Yixiao Wu, Jingxuan Hu   +6 more
openalex   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Where, How, and How Much? A Multicenter Cohort Study of the Relationship Across Lupus Decision‐Aid Modality, Place of Administration, Interruption and Viewing Completeness, and Patient‐Reported Outcomes

Arthritis Care &Research, EarlyView.
Objective We assessed whether shared decision‐making (SDM) and patient acceptability, feasibility, and overall satisfaction with a computerized patient decision aid (PtDA) for patients with systemic lupus erythematosus (SLE) differs by PtDA setting, modality, and the viewing experience. Methods Patients with SLE were invited to view a self‐administered
Jasvinder A. Singh, Mark Beasley, Larry R. Hearld, for the Implementing Decision‐Aid for Lupus in Clinics (IDEAL) Consortium, Winn Chatham, Jasvinder Singh, Sonali Narain, Narender Annapureddy, Diane Kamen, Kimberly Trotter, Vikas Majithia, Cathy Ching, Zineb Aouhab, Swamy Venturupalli, Rosalind Ramsey‐Goldman, Alfred Kim, Maureen McMahon, Sam Lim, Kalpana Bhairavarasu, Alexa Meara, Kenneth Kalunian   +20 more
wiley   +1 more source

Development of a Personalized Visualization and Analysis Tool to Improve Clinical Care in Complex Multisystem Diseases With Application to Scleroderma

Arthritis Care &Research, EarlyView.
Objective In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently, and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of the trajectory of a ...
Ji Soo Kim, John Scott, Lauren Fisher, Lauren N. Smith, Willie Stewart, Adrianne Woods, Rob Smithwright, Diane Koher, Parastoo Aslanbeik, Aalok B. Shah, Brad Tibbils, Samantha I. Pitts, Ayse P. Gurses, Yushi Yang, Ana‐Maria Orbai, Antony Rosen, Laura K. Hummers, Scott L. Zeger, Ami A. Shah   +18 more
wiley   +1 more source

Advancing 2D material predictions: superior work function estimation with atomistic line graph neural networks. [PDF]

RSC Adv
Sibi H, Biju J, Chowdhury C.
europepmc   +1 more source