Results 71 to 80 of about 8,988 (255)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
Psykhe, 2006 Para estudiar cómo ser observado afecta el rendimiento cognitivo, generalmente se han usado experimentos de laboratorio en los que la tarea predominante ha sido la aritmética mental (por ejemplo, sumar mentalmente números de dos dígitos).
Sergio Chaigneau +2 more
doaj
La violencia económica hacia las mujeres. Una mirada desde la Universidad de Oriente
Santiago, 2021 Una de las manifestaciones de violencia de género con insuficiente tratamiento teórico-conceptuales la violencia económica hacia las mujeres. El trabajo que se presenta tiene como objetivo determinar los factores socioculturales que inciden en la ...
Marizol Ruano-Duany +1 more
doaj
Clinical Validation of Plasma p‐217tau in Neurological Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
Revista Cubana de Estomatología, 2004 Se realiza un estudio sobre la importancia de la relación estomatólogo - paciente con respecto a los factores biológicos, psicológicos y sociales que la imbrican.
Antonio O Blanco Ruiz +4 more
doaj
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
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
Factores sociales y culturales relacionados al estado nutricional en menores de 2 años ecuatorianos
Revista Eugenio EspejoLa desnutrición infantil constituye un desafío de gran importancia en el ámbito de la salud pública. El objetivo de la investigación fue evaluar la influencia de los factores sociales y culturales en el estado nutricional en niños menores ecuatorianos ...
Sandy Michelle Orellana Posligua +1 more
doaj +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
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