Results 11 to 20 of about 362,106 (369)

Phenotypic continuum of NFU1‐related disorders

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian   +45 more
wiley   +1 more source

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2041-2046, December 2022., 2022
Abstract The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is necessary for quantitative data pooling. We applied the modified Friedreich Ataxia Rating Scale
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben   +5 more
wiley   +1 more source

Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1962-1973, December 2022., 2022
Abstract Objectives Early‐ and late‐onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain‐specific cognitive function in a well characterized cohort of patients with a biomarker‐based diagnosis.
Adrià Tort‐Merino, Neus Falgàs, Isabel E. Allen, Mircea Balasa, Jaume Olives, José Contador, Magdalena Castellví, Jordi Juncà‐Parella, Núria Guillén, Sergi Borrego‐Écija, Bea Bosch, Guadalupe Fernández‐Villullas, Oscar Ramos‐Campoy, Anna Antonell, Lorena Rami, Raquel Sánchez‐Valle, Albert Lladó   +16 more
wiley   +1 more source

CannaCount: an improved metric for quantifying estimates of maximum possible cannabinoid exposure

Scientific Reports, 2023
Increasing numbers of individuals have access to cannabinoid-based products containing various amounts of delta-9-tetrahydrocannabinol (THC), cannabidiol (CBD), and other cannabinoids. Exposure to specific cannabinoids likely influences outcomes; however,
Ashley M. Lambros, Kelly A. Sagar, M. Kathryn Dahlgren, Deniz Kosereisoglu, Celine El-Abboud, Rosemary T. Smith, Staci A. Gruber   +6 more
doaj   +1 more source

Multimodal neuroimaging in post-COVID syndrome and correlation with cognition

Brain : a journal of neurology, 2022
Brain changes have been reported in the first weeks after SARS-CoV-2 infection. However, limited literature exists about brain alterations in post-COVID syndrome, a condition increasingly associated with cognitive impairment.
María Díez-Cirarda, Miguel Yus, N. Gómez-Ruiz, Carmen Polidura, Lidia Gil-Martínez, Cristina Delgado-Alonso, M. Jorquera, U. Gómez-Pinedo, J. Matías‐Guiu, J. Arrazola, J. Matías-Guiu   +10 more
semanticscholar   +1 more source

Neuroimaging in Dementia [PDF]

Neurotherapeutics, 2011
Dementia is a common illness with an incidence that is rising as the aged population increases. There are a number of neurodegenerative diseases that cause dementia, including Alzheimer's disease, dementia with Lewy bodies, and frontotemporal dementia, which is subdivided into the behavioral variant, the semantic variant, and nonfluent variant ...
Tartaglia, Maria Carmela, Rosen, Howard J., Miller, Bruce L.   +2 more
openaire   +5 more sources

Machine learning for neuroimaging with scikit-learn [PDF]

Front. Neuroinform., 2014
Statistical machine learning methods are increasingly used for neuroimaging data analysis. Their main virtue is their ability to model high-dimensional datasets, e.g., multivariate analysis of activation images or resting-state time series.
Alexandre Abraham, Fabian Pedregosa, Michael Eickenberg, Philippe Gervais, A. Mueller, Jean Kossaifi, Alexandre Gramfort, B. Thirion, G. Varoquaux   +8 more
semanticscholar   +1 more source

Using functional connectivity changes associated with cognitive fatigue to delineate a fatigue network

Scientific Reports, 2020
Cognitive fatigue, or fatigue related to mental work, is a common experience. A growing body of work using functional neuroimaging has identified several regions that appear to be related to cognitive fatigue and that potentially comprise a “fatigue ...
G. R. Wylie, B. Yao, H. M. Genova, M. H. Chen, J. DeLuca   +4 more
doaj   +1 more source

An in-vivo study of BOLD laminar responses as a function of echo time and static magnetic field strength

Scientific Reports, 2021
Layer specific functional MRI requires high spatial resolution data. To compensate the associated poor signal to noise ratio it is common to integrate the signal from voxels at a given cortical depth.
Irati Markuerkiaga, José P. Marques, Lauren J. Bains, David G. Norris   +3 more
doaj   +1 more source

Evaluation of Amyotrophic Lateral Sclerosis-Induced Muscle Degeneration Using Magnetic Resonance-Based Relaxivity Contrast Imaging (RCI)

Tomography, 2021
(1) Background: This work characterizes the sensitivity of magnetic resonance-based Relaxivity Contrast Imaging (RCI) to Amyotrophic Lateral Sclerosis (ALS)-induced changes in myofiber microstructure.
Sudarshan Ragunathan, Laura C. Bell, Natenael Semmineh, Ashley M. Stokes, Jeremy M. Shefner, Robert Bowser, Shafeeq Ladha, C. Chad Quarles   +7 more
doaj   +1 more source