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Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Science (New York, N.Y.)|July 16, 2026
Dendritic cells control tertiary lymphoid structure development and maintenance in cancerRaphaël Mattiuz, Jesse Boumelha, Emmanouil Aerakis, et al.Neurobiology of Aging|November 19, 2018
A comprehensive screening of copy number variability in dementia with Lewy bodiesCelia Kun-Rodrigues, Tatiana Orme, Susana Carmona, et al.Archivos De Bronconeumologia|April 20, 2021
International Consensus Document on Obstructive Sleep ApneaOlga Mediano, Nicolás González Mangado, Josep M Montserrat, et al.Neurobiology of Disease|April 7, 2019
Heritability and genetic variance of dementia with Lewy bodiesRita Guerreiro, Valentina Escott-Price, Dena G Hernandez, et al.Acta Neuropathologica|December 15, 2015
Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategyGabor G Kovacs, Isidro Ferrer, Lea T Grinberg, et al.Antibiotics (Basel, Switzerland)|September 28, 2021
Sars-Cov-2 Infection in Patients on Long-Term Treatment with Macrolides in Spain: A National Cross-Sectional StudyCarmen Marina Meseguer Barros, Natalia Alzueta Isturiz, Rita Sainz de Rozas Aparicio, et al.Human Molecular Genetics|May 5, 2012
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseasesGiovanni Coppola, Subashchandrabose Chinnathambi, Jason JiYong Lee, et al.The Journal of Trauma and Acute Care Surgery|September 16, 2025
Percutaneous pigtail catheter versus chest tube for the treatment of pediatric traumatic hemothorax: An Eastern Association for the Surgery of Trauma multicenter studyLaura F Goodman, Alice M Martino, John Schomberg, et al.Pageof 213