Results 121 to 130 of about 3,053,942 (361)

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

CNS Mitochondria‐Derived Vesicle in Blood: Potential Biomarkers for Brain Mitochondria Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial dysfunction is a hallmark of neurodegenerative diseases like Alzheimer's (AD) and Parkinson's (PD). Our goal was to develop practical, noninvasive methods to assess mitochondrial status through the detection of mitochondria‐derived vesicles (MDVs).
Qi Liu, Wentao Chen, Yahong Wu, Zhen Guo, Jun Chen, Chen Tian, Pan Wang, Shaopeng Zeng, Bin Xu, Jing Duan, Shilong Han, Xiao Xiong, Jing Zhang   +12 more
wiley   +1 more source

Specific impairments in cognitive development: a dynamical systems approach [PDF]

, 2008
Neuropsychologists have frequently proposed that domain-specific deficits can be observed in developmental disorders (e.g., phonology in dyslexia, theory of mind in autism, grammar in specific language impairment, face recognition in prosopagnosia ...
Baughman, Frank D., Thomas, Michael S.C.
core   +1 more source

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano, Megan A. Iammarino, Natalie F. Reash, Linda P. Lowes, Lindsay Pietruszewski, Kathleen Adderley, Lauren Humphrey, Audrey B. Knight, Christopher L. Steiner, Melissa A. Smith, Zarife Sahenk, Anne M. Connolly, Momen Almomen, Eleonora S. D'Ambrosio, Nathan Peck, Allison Peck   +15 more
wiley   +1 more source

Cognitive Development

Malik F, Marwaha R.
europepmc   +2 more sources

PERCEPTUAL‐COGNITIVE DEVELOPMENT IN INFANCY: A GENERALIZED EXPECTANCY MODEL AS A FUNCTION OF THE MOTHER‐INFANT INTERACTION1 [PDF]

, 1968
Michael Lewis, Susan Goldberg
openalex   +1 more source

Parental Employment and Child Cognitive Development [PDF]

This study investigates the relationship between parental employment and child cognitive development using data from multiple years of the National Longitudinal Survey of Youth.
Christopher J. Ruhm
core  

Morality Play: A Model for Developing Games of Moral Expertise [PDF]

, 2019
According to cognitive psychologists, moral decision-making is a dual-process phenomenon involving two types of cognitive processes: explicit reasoning and implicit intuition.
Formosa, Paul, Ryan, Malcolm, Staines, Dan   +2 more
core  

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

An unconstrained four pool model analysis of proton relaxation and magnetization transfer in ex vivo white matter

Scientific Reports
Understanding proton relaxation in the brain’s white matter remains an active field of magnetic resonance imaging research. Models of varying complexity have been proposed to link measurements to tissue composition/microstructure, in particular ...
Niklas Wallstein, André Pampel, Roland Müller, Carsten Jäger, Markus Morawski, Harald E. Möller   +5 more
doaj   +1 more source