Results 211 to 220 of about 3,599,127 (301)

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

Sex Differences Shape Brain Development and Function, in Health and Disease: Policy Implications

, 2017
Staci D. Bilbo
openalex   +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

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development. [PDF]

Front Endocrinol (Lausanne)
Yavas Abalı Z, Guran T.
europepmc   +1 more source

National Institute of Health and Care Excellence Clinical Criteria for the Diagnosis of Knee Osteoarthritis: A Prospective Diagnostic Accuracy Study in Individuals With Type 2 Diabetes

Arthritis Care &Research, EarlyView.
Objective The National Institute of Health and Care Excellence (NICE) criteria for osteoarthritis (OA) obviate the need for physical examination or imaging, and their use may improve timely diagnosis of OA. However, they have not been validated. Methods Within a larger study of individuals with type 2 diabetes, participants with and without self ...
Lauren K. King, Ian Stanaitis, Vivian Hung, Sahil Koppikar, Esther J. Waugh, Lorraine Lipscombe, Gillian A. Hawker   +6 more
wiley   +1 more source

Trajectories of illness uncertainty among parents of children with atypical genital appearance due to differences of sex development. [PDF]

J Pediatr Psychol
Traino KA, Ciciolla LM, Perez MN, Chaney JM, Welch G, Baskin LS, Buchanan CL, Chan YM, Cheng EY, Coplen DE, Wisniewski AB, Mullins LL.   +11 more
europepmc   +1 more source

Education Towards Differences: Preventing Gender and Sex Discriminations in Subjects in the Age of Development

, 2017
Mariano Gianola, Giuseppe Masullo
openalex   +2 more sources

Incidence of and Risk of Mortality After Hip Fractures in Rheumatoid Arthritis Relative to the General Population

Arthritis Care &Research, EarlyView.
Objective Osteoporosis, a known complication of rheumatoid arthritis (RA), increases the risk of hip fracture, which is associated with high morbidity and mortality. Fracture risk estimates in patients with RA treated with contemporary treatment strategies are lacking.
C. Allyson Jones, Pierre Guy, Hui Xie, Eric C. Sayre, Kai Zhao, Diane Lacaille   +5 more
wiley   +1 more source

Supplementary Material for: Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal

, 2017
Kranenburg L.J.C., Reerds S.T.H., Martine Cools, J. Alderson, Miriam Muscarella, E. Magrite, M. J. Kuiper, S. Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean‐Pierre Chanoine, Asma Deeb, Patricia Y. Fechner, Alexander J. German, Paul‐Martin Holterhus, Anders Juul, Berenice B. Mendonça, Karen Neville, Ana Nordenstrom, Wilma Oostdijk, Rodolfo A. Rey, M.M. Rutter, Neel Shah, X. Luo, Kalinka Grijpink, Drop S.L.S.   +25 more
openalex   +2 more sources

Immunosuppressive Drugs in Early Systemic Sclerosis and Prevention of Damage Accrual

Arthritis Care &Research, EarlyView.
Objective Organ damage in patients with systemic sclerosis (SSc) in individual organs such as the lungs may be prevented by receiving immunosuppressive drugs (ISs). A new measure of global organ damage, the Scleroderma Clinical Trials Consortium Damage Index (SCTC‐DI), has allowed us to investigate whether receiving ISs may reduce global organ damage ...
Murray Baron, Mandana Nikpour, Dylan Hansen, Susanna Proudman, Wendy Stevens, on behalf of the Australian Scleroderma Interest Group and the Canadian Scleroderma Research Group, Joanne Sahhar, Nava Ferdowsi, Kathleen Morrisroe, Laura Ross, Gene Siew Ngian, Jennifer Walker, Janet Roddy, Lauren Host, Mohammed Osman, Peter Docherty, Paul Fortin, Marvin Jacob Fritzler, Genevieve Gyger, Alena Ikic, Niall Jones, Elzbieta Kaminska, Maggie Larche, Sophie Ligier, Ada Man, Ariel Masetto, Janet Pope, David Robinson, Tatiana Sofia Rodriguez‐Reyna, Mianbo Wang   +29 more
wiley   +1 more source