Results 231 to 240 of about 118,894 (281)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

A global dataset of soil organic carbon accumulation rate in coastal ecosystems. [PDF]

Sci Data
Pang L, Xu T, Hu Z, Cui B, Zhang N, Xue L, Liu S, Chi S, Liu Z.   +8 more
europepmc   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Acute Kidney Injury After Mechanical Thrombectomy for Stroke in Patients With Pre‐Existing Renal Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Acute kidney injury (AKI) is a common but often underrecognized complication in ischemic stroke patients undergoing mechanical thrombectomy, particularly among those with pre‐existing renal impairment. This study evaluated the incidence, risk factors, and clinical impact of AKI in this high‐risk population.
Michał Borończyk, Marcel Pilarek, Emilia Jaworska, Natalia Kardas, Oliwia Barnaś, Julia Woźniak, Iga Machała, Julia Węgrzynek‐Gallina, Joanna Siuda, Anna Hawrot‐Kawecka, Anetta Lasek‐Bal   +10 more
wiley   +1 more source

Potential sublimating exocomets around the young star PDS 70. [PDF]

Nat Commun
Novais A, Hoeijmakers HJ, Stockwell Murphy A, Prinoth B, Johansen A, Jaworska K, Ghezzi L.   +6 more
europepmc   +1 more source

MFSD2A in health and disease: lysolipid transport, barrier physiology, and translational boundaries. [PDF]

Mol Biomed
Gan J, Chen Y, Xin L.
europepmc   +1 more source

Field Evaluation of Temperature and Wind-Speed Sensor Performance Under Natural Icing Conditions for Power Meteorological Monitoring. [PDF]

Sensors (Basel)
Zheng H, Liu X.
europepmc   +1 more source

Tidal Wetland Soil Carbon Accumulation Rates for Coastal California. [PDF]

Sci Data
Holmquist JR, Brown LN, Fard E, Ambrose RF, Hargan KE, Hammond DE, Kemnitz NJ, Smol JP, Thorne K, MacDonald GM.   +9 more
europepmc   +1 more source

Continuous adaptive chemotherapy dosing by using planet-formation-inspired dynamics: analytical and <i>in silico</i> insights. [PDF]

Front Oncol
Soares Dos Santos MP, Santos SXF, Bernardo RMC, Vidal JV, Gonçalves G.   +4 more
europepmc   +1 more source

Assessing the impact of infrastructure proliferation on shoreline dynamics around Mexico. [PDF]

Sci Rep
Marin-Coria E, Martínez ML, Silva R, Chávez V, Maximiliano-Cordova C, Pedraza-Buitrago M, López-Portillo J.   +6 more
europepmc   +1 more source