Results 141 to 150 of about 1,699,857 (244)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Diffusion Basis Spectrum Imaging of Tissue Microstructure and Early Treatment in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Conventional MRI cannot resolve the coexisting pathological processes within multiple sclerosis tissue. Diffusion Basis Spectrum Imaging decomposes the diffusion signal into fiber, cell, and hindered ratios indexing axonal integrity, cellularity, and extracellular space, respectively.
Apisit Kaewsanit, Aime Luna, Bradley Judge, Nicole Shelley, Karl Friedrichsen, Jayashree Rajamanickam, Zhude Tu, Yong Wang, Tammie L. S. Benzinger, Qing Wang, Matthew R. Brier   +10 more
wiley   +1 more source

On convolved weight matrices and local solvability with controlled loss of regularity. [PDF]

Ann Univ Ferrara Sez 7 Sci Mat
Schindl G.
europepmc   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

Unequal access to restorative coastal blue-green places: social vulnerability and place-based well-being opportunities in a coastal metropolis. [PDF]

Front Public Health
Liu B, Yu X, Yu L, Zheng H, Li G.
europepmc   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Activity-Weighted Assessment and Environmental Drivers of Compound Ozone-Heat Exposure Risk in Urban Outdoor Exercise Spaces. [PDF]

Toxics
Su R, Yao Z, Zhang S, Zhang K, Du P, Yao L.   +5 more
europepmc   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Sequestered Lumbar Disc Herniation Mimicking a Spinal Tumor: A Case Report. [PDF]

Cureus
Khader G, Momotiuk I, Alkorayshi MK, Buhl R.   +3 more
europepmc   +1 more source

Clinical Validation of Artificial Intelligence (AI)‐based Cartilage Segmentation Predicting Knee Replacement

Arthritis Care &Research, Accepted Article.
Objective For cartilage morphology to serve as a scalable endpoint in clinical trials, analyses should be performed automatically without human interaction. To clinically validate artificial intelligence (AI)‐based analysis, we studied cartilage loss from MRI prior to knee replacement.
Felix Eckstein, David J. Hunter, C. Kent Kwoh, Wolfgang Wirth   +3 more
wiley   +1 more source