Results 41 to 50 of about 76,010 (254)

Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder

Frontiers in Pediatrics, 2022
Objective:Vitro functional analyses of KCNB1 variants have been done to disclose possible pathogenic mechanisms in KCNB1-related neurodevelopmental disorder.
Juan Xiong, Juan Xiong, Zhonghua Liu, Shimeng Chen, Shimeng Chen, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Haolin Duan, Haolin Duan, Xiaolu Deng, Xiaolu Deng, Lifen Yang, Lifen Yang, Jing Peng, Jing Peng, Fei Yin, Fei Yin   +18 more
doaj   +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

Barriers to Health Care Among Adults with Disabilities in Connecticut

Developmental Disabilities Network Journal
It is estimated that 25% of adults in the US are living with one or more disabilities. Persons with disabilities (PWD) have unmet health care needs, experience health disparities compared to those without disabilities.
Mary Beth Bruder, PhD, Tara M. Lutz, PhD, Kelly E. Ferreira, PhD   +2 more
doaj   +1 more source

Alzheimer’s disease brain contains tau fractions with differential prion-like activities

Acta Neuropathologica Communications, 2021
Neurofibrillary tangles (NFTs) made of abnormally hyperphosphorylated tau are a hallmark of Alzheimer’s disease (AD) and related tauopathies. Regional distribution of NFTs is associated with the progression of the disease and has been proposed to be a ...
Longfei Li, Ruirui Shi, Jianlan Gu, Yunn Chyn Tung, Yan Zhou, Dingwei Zhou, Ruozhen Wu, Dandan Chu, Nana Jin, Kevin Deng, Jiawei Xu, Cheng-Xin Gong, Khalid Iqbal, Fei Liu   +13 more
doaj   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Increased Endocannabinoid Signaling Reduces Social Motivation in Intact Rats and Does Not Affect Animals Submitted to Early-Life Seizures

Frontiers in Behavioral Neuroscience, 2020
The early life status epilepticus (SE) causes high anxiety and chronic socialization abnormalities, revealed by a low preference for social novelty and deficit in social discrimination.
Fernanda Teixeira Ribeiro, Marcia Ivany Silva de Serro-Azul, Fernanda Beraldo Lorena, Bruna Pascarelli Pedrico do Nascimento, Alexandre José Tavolari Arnold, Geraldo Henrique Lemos Barbosa, Miriam Oliveira Ribeiro, Roberta Monterazzo Cysneiros   +7 more
doaj   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source

Self-Determination Research: Current and Future Directions

Behavioral Sciences
This article summarizes the history, current status, and future directions of self-determination research across the globe, with a focus on applications to the education of students with intellectual and developmental disabilities and their transition ...
Kathryn M. Burke, Karrie A. Shogren, Andrea Parente, Abdulaziz Alsaeed, Austin M. Myers, Shawn Aleong   +5 more
doaj   +1 more source

Intellectual Disability and Potassium Channelopathies: A Systematic Review

Frontiers in Genetics, 2020
Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood.
Miriam Kessi, Miriam Kessi, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Jing Peng, Jing Peng, Yulin Tang, Yulin Tang, Eleonore Olatoutou, Eleonore Olatoutou, Fang He, Fang He, Lifen Yang, Lifen Yang, Fei Yin, Fei Yin   +17 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source