Results 221 to 230 of about 14,483,128 (326)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Correction: Fernandez et al. Metabarcoding Reveals Diversity of Potentially Toxic Algae in Papeete Port (Tahiti). <i>Toxins</i> 2025, <i>17</i>, 424. [PDF]

Toxins (Basel)
Fernandez S, Cartairade L, Garcia-Vazquez E, Planes S.   +3 more
europepmc   +1 more source

Grundlagen zur systematischen Erfassung koptischer Textilien", Martin Baerlocher, Basel 1983 : [recenzja] / I. Turnau.

, 1985
I. Turnau, Martin Baerlocher
openalex   +1 more source

Comparative evaluation of single‐artery cannulation with passive venous drainage versus traditional dual‐cannula ex vivo lung perfusion in a rat model

Animal Models and Experimental Medicine, EarlyView.
This study compared a simplified rat ex vivo lung perfusion model with single‐artery inflow and passive vein drainage to the traditional dual‐catheter closed‐loop system. Abstract Background Ex vivo lung perfusion (EVLP) has emerged as a critical technique for lung preservation and evaluation prior to transplantation.
Ming Ni, Fei Xue, Xuanpeng Wu, Chenxi Li, Shuhao Liang, Tianhao Chen, Leyu Hong, Chao Luo, Tong Liu, Jingyao Zhang, Chang Liu, Qifei Wu   +11 more
wiley   +1 more source

Correction: Chen et al. Evolutionary Insights and Flowering Regulation of <i>SPLs</i> in Coconut Palm. <i>Plants</i> 2025, <i>14</i>, 2532. [PDF]

Plants (Basel)
Chen R, Feng Y, Zhou J, Wang Y, Zhang F, Rehman S, Yang Z, Lao Z, Xu H, Xiao Y, Luo J, Xia W.   +11 more
europepmc   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Correction: Hoang, P.; Guccione, J. Finite Element Modeling in Left Ventricular Cardiac Biomechanics: From Computational Tool to Clinical Practice. <i>Bioengineering</i> 2025, <i>12</i>, 913. [PDF]

Bioengineering (Basel)
Hoang P, Guccione J.
europepmc   +1 more source

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large‐Scale, Multi‐Cohort Proteomic Study

Annals of Neurology, EarlyView.
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Oleksandr Dergai, Joanne Wuu, Magdalena Koziczak‐Holbro, Andrea Malaspina, Volkan Granit, Jessica P. Hernandez, Anne Cooley, Ruchika Sachdev, Lili Yu, Michael Bidinosti, Ludivine Flotte, Mark Nash, Lori L. Jennings, James D. Berry, Lucie I. Bruijn, Sophie Brachat, Michael Benatar   +16 more
wiley   +1 more source

Comment on Korkmaz et al. A Deep Learning and Explainable AI-Based Approach for the Classification of Discomycetes Species. <i>Biology</i> 2025, <i>14</i>, 719. [PDF]

Biology (Basel)
Pastore EP.
europepmc   +1 more source

Thrombectomy versus Medical Management for Pediatric Acute Ischemic Stroke Due to Isolated M2 Occlusion: A Multicenter Cohort Study

Annals of Neurology, EarlyView.
Objective Endovascular thrombectomy (EVT) is increasingly used for pediatric large vessel occlusion (LVO) stroke, however, its role in isolated M2 occlusions remains underexplored. This study compared clinical outcomes in children with isolated M2 occlusion treated with EVT versus best medical therapy (BMT). Methods This multicenter cohort study pooled
Peter B. Sporns, Kartik D. Bhatia, Prakash Muthusami, Carmen Parra‐Farinas, Christine K. Fox, Adam A. Dmytriw, Basile Kerleroux, Sarah Lee, Jens Fiehler, Christian Lehmann, Franja Dugar, Todd Abruzzo, Lisa Pabst, Stuart Fraser, Lisa R. Sun, Grégoire Boulouis, Tanja Burkard, Olivier Naggara, Manoelle Kossorotoff, André Kemmling, Martin Olivieri, Mesha Martinez, Marios Psychogios, Thi Dan Linh Nguyen‐Kim, Moritz Wildgruber   +24 more
wiley   +1 more source