Results 221 to 230 of about 480,116 (303)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Determinants and Phenotypes of Poorly Controlled COPD Using the RADAR Score: A Cohort in Real-World Primary Care. [PDF]

J Clin Med
Calle Rubio M, Esmaili S, Rodríguez Hermosa JL, Esmaili I, Sanz MCA, Doria Carlin N, Ekech Mesa E, González Álvarez M, Privado Martínez P, Serrano López De Las Hazas A, Artica García J, Marín Becerra MT, Sánchez-Del Hoyo R, Montenegro M.   +13 more
europepmc   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Covidence, Rayyan, EPPI Centre, Distiller SR, RevMan. [PDF]

J Med Libr Assoc
Silva JJS, Fernández S, Rosillo N, Bueno H.   +3 more
europepmc   +1 more source

MADRID

Indústrias Culturais, 2007
openaire   +1 more source

Clinical Burden of Carbapenemase-Producing Enterobacterales in Spain: A Multicenter Retrospective Study from Five Hospitals. [PDF]

Infect Drug Resist
Watanabe AH, Cano Á, Escudero-Sánchez R, Pesaresi L, Delgado-Iribarren A, Ponz R, Zhou Y, Moreno-Fernandez AM, Galán-Sánchez F, Yücel E.   +9 more
europepmc   +1 more source

Correction: Effects of a pain oriented biobehavioral therapeutic education program on brain plasticity and pain intensity in subjects with chronic musculoskeletal pain: a feasibility study of a randomized controlled trial. [PDF]

Front Neurosci
Di-Bonaventura S, Donado-Bermejo A, Matesanz-García L, Molina-Álvarez M, León-Hernández JV, Lizcano-Álvarez Á, Lerma-Lara S, Nogales-Morales M, Molina N, Fernández-Carnero J, Gurdiel-Álvarez F, Ferrer-Peña R.   +11 more
europepmc   +1 more source

The Impact of Malnutrition Risk and Perioperative Complications in Gastrointestinal Cancer Patients Undergoing Elective Major Surgery: A Prospective Observational Multicenter Study. [PDF]

Nutrients
Durán-Poveda M, Rodríguez Caravaca G, Suárez-de-la-Rica A, Rodríguez Villar D, Pernaute AS, Cancer Minchot E, Bretón JO, Díaz-Vico T, Martínez-Amores B, PREMAS Study Group.   +9 more
europepmc   +1 more source

Promoting mental health in nursing students during clinical training: a phenomenological analysis of a psychoeducational intervention. [PDF]

Int J Qual Stud Health Well-being
González-Sanz P, Posada-Abadía CI, Pajares González-Gallego O, González-Pascual JL, Jiménez-Gomez B, Belinchón-De Miguel P.   +5 more
europepmc   +1 more source

A liposomal formulation of cyclosporine a shows promising results in treating symptoms of moderate to severe dry eye disease in dogs. [PDF]

Drug Deliv Transl Res
Caballo-González MÁ, Gómez-Ballesteros M, Brugnera M, Benítez-Del-Castillo JM, González-Alonso-Alegre EM, Rodríguez-Álvaro A, de-Las-Heras B, Gil-Alegre E, Vicario-de-la-Torre M, Herrero-Vanrell R, Molina-Martínez IT.   +10 more
europepmc   +1 more source