Results 131 to 140 of about 112,493 (298)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
El gobierno de Macri en las redes sociales. ¿Hacia la democratización de la comunicación política? [PDF]
, 2017 El capítulo analiza la imagen corporativa del gobierno argentino a través de las redes sociales en relación con la configuración de un relato que intenta justificar y legitimar las políticas y las personas que conforman el actual gobierno de Macri.
Gadea Aiello, Walter Federico +1 more
core
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Recomendaciones para aprovechar tu presencia en redes sociales para hacer crecer tu negocio [PDF]
, 2020 Analiza todas las redes sociales y cuál es la mejor opción para tu negocio, no necesitas estar en todas pero si en aquellas donde puedas lograr un mejor contacto con tus clientes.
Cámara de Comercio de Bogotá
core
Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper +25 more
wiley +1 more source
Redes sociales, apoyo social y salud
Perifèria. Revista d'investigació i formació en Antropologia, 2005 En los últimos años, el ambiente social ha sido reconocido como un complejo sistema estructural, cultural, interpersonal y psicológico con propiedades adaptativas y de ajuste frente a determinadas situaciones relacionadas con los procesos de salud-enfermedad y también como un sistema contenedor de elementos estresares y/o ...
openaire +4 more sources
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Universidad y producción de conocimiento orientado a la política criminal. Un estudio de caso
Cuestiones de Sociología, 2015 Se presentan resultados parciales de una investigación en curso que analiza la producción de conocimiento criminológico en el ámbito universitario público argentino desde la perspectiva del campo CTS. El foco principal de interés es la caracterización de
Javier Ávila, María Elina Estébanez
doaj
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source