Results 131 to 140 of about 1,572,195 (325)

Spectrum Analysis of Mesons using Nikiforov-Uvarov Functional Analysis Method [PDF]

, 2022
V. Kumar
openalex   +1 more source

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe, Ane Murueta‐Goyena, Antonio Jimenez‐Marin, Marian Acera, Sara Teijeira‐Portas, Rocío Del Pino, Tamara Fernández‐Valle, Ibai Diez, Unai Sainz‐Lugarezaresti, Naroa Ibarretxe‐Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera‐Zubizarreta, Jesús Cortés, Juan Carlos Gómez‐Esteban, Iñigo Gabilondo   +15 more
wiley   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Estimation of the Contaminant Risk Level of Petroleum Residues Applying FDA Techniques

Latin-American Journal of Computing, 2017
In the process of oil extraction, specifically in therefinement and industrialization of hydrocarbons, as is known,multiple wastes are highly polluting for the soil, water and air.In this work, the risk level of these wastes in affected areasis estimated
Miguel Flores, Ana Escobar, Luis Horna, Lucia Carrión   +3 more
doaj  

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

Overlaps in brain dynamic functional connectivity between schizophrenia and autism spectrum disorder

Scientific African, 2019
Schizophrenia and autism share some genotipic and phenotypic aspects as connectome miswiring and common cognitive deficits. Currently, there are no medical tests available for either disorders, and diagnostics for both of them include direct reports of ...
Andry Andriamananjara, Rayan Muntari, Alessandro Crimi   +2 more
doaj  

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley, Bradley Judge, Dmitriy A. Yablonskiy, Robert T. Naismith, Matthew R. Brier, Anne H. Cross   +5 more
wiley   +1 more source