Results 321 to 330 of about 2,062,667 (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

Global subnational estimates of migration of scientists reveal large disparities in internal and international flows. [PDF]

Proc Natl Acad Sci U S A
Akbaritabar A, Dańko MJ, Zhao X, Zagheni E.   +3 more
europepmc   +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

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 Overview of Body Size Preference, Perception and Dissatisfaction in Sub-Saharan Africans Living in the United States. [PDF]

Diabetes Metab Syndr Obes
Hurston JS, Worthy CC, Huefner EA, Sayed MS, Dubose CW, Mabundo LS, Horlyck-Romanovsky MF, Younger-Coleman N, Sumner AE.   +8 more
europepmc   +1 more source

“It's Just Good Science”: A Qualitative Study Exploring Equity, Diversity, and Inclusion in Canadian Arthritis Research

Arthritis Care &Research, EarlyView.
Objective Despite knowledge that health outcomes vary according to patient characteristics, identity, and geography, including underrepresented populations in arthritis research remains a challenge. We conducted interviews to explore how researchers in arthritis have used equity, diversity, and inclusion (EDI) principles to inform their research ...
Megan M. Thomas, Mark Harrison, Cheryl Barnabe, Charlene E. Ronquillo, J. Antonio Avina‐Zubieta, Anna Samson, Michael Kuluva, Natasha Trehan, Mary A. De Vera   +8 more
wiley   +1 more source

The adoption of renewable energy towards environmental sustainability: Evidence from Partial Least Square Structural Equation Modelling (PLS-SEM). [PDF]

PLoS One
Gyimah J, Batasuma S, Yao X, Wauk G.
europepmc   +1 more source

Estimating Budget Impact and Joint Replacement Avoidance by Implementing a Standardized Education and Exercise Therapy Program for Hip and Knee Osteoarthritis in a Publicly Insured Health Care System

Arthritis Care &Research, EarlyView.
Objective The study objective was to estimate the budget impact of funding a standardized education and exercise therapy program, Good Life with osteoArthritis in Denmark (GLA:D) for people with hip and knee osteoarthritis (OA) waiting for total joint replacement (TJR) consultation in a universal publicly insured health care system in Canada.
Darren R. Mazzei, Jackie L. Whittaker, Peter Faris, Tracy Wasylak, Deborah A. Marshall   +4 more
wiley   +1 more source

Embracing Global Health in Medical Education: A Necessity for Modern Doctors. [PDF]

JACC Case Rep
Hon JJ.
europepmc   +1 more source

"While the wolf is away": the echo of globalization delaying family decisions in intensive care. [PDF]

Crit Care Sci
Teixeira C, Rocha DBM, Rosa MDSD.
europepmc   +1 more source