Results 271 to 280 of about 5,450,952 (343)

Retraction Note: Mutant Runx2 regulates amelogenesis and osteogenesis through a miR-185-5p-Dlx2 axis. [PDF]

Cell Death Dis
Chang H, Wang Y, Liu H, Nan X, Wong S, Peng S, Gu Y, Zhao H, Feng H.   +8 more
europepmc   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

The incidence and determinants of traumatic brain injury deaths occurring outside hospital in Australia. [PDF]

Emerg Med Australas
O'Reilly GM, Afroz A, Curtis K, Mitra B, Kim Y, Solly E, Ryder C, Hunter K, Hendrie DV, Rushworth N, Tee J, Fitzgerald MC.   +11 more
europepmc   +1 more source

Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade, Nha Trang Thu Pham, Sarah M. Boland, Heather M. Clark, Joseph R. Duffy, Jennifer L. Whitwell, Hugo Botha, Keith A. Josephs, Rene L. Utianski   +8 more
wiley   +1 more source

Temporal trends in mortality due to coronary heart disease in Germany from 1998 to 2023. [PDF]

J Health Monit
Steppuhn H, Baumert J, Rücker V, Günther K, Wengler A, Tetzlaff F, Neuhauser H.   +6 more
europepmc   +1 more source

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

Childhood mercury exposure and early death in Grassy Narrows First Nation, Canada: a retrospective study. [PDF]

Environ Health
Mergler D, Philibert A, Fillion M, Silva JD.   +3 more
europepmc   +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

Disability-adjusted life years, years lived with disability, and years of life lost of diseases among children and adolescents in national and subnational levels of Iran, 1990-2021: A systematic analysis for the Global Burden of Disease 2021. [PDF]

PLoS One
Gholami B, Bastan MM, Gholami S, Nejati A, Khosravi S, Malekpour MR, Rezaei N, Shahin S, Golestani A.   +8 more
europepmc   +1 more source

Conversation with Death

Journal of Folklore Research, 2004
openaire   +5 more sources