Results 91 to 100 of about 600,164 (335)
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah +4 more
wiley +1 more source
Política de población en el Perú. Una respuesta madura
Acta Médica Peruana, 1979 La política de Población, aprobada el 31 de agosto de 1976 por D.S N°00625-76-SA, como Política Multisectorial incluida en el Plan Nacional de Desarrollo, es la respuesta madura, fruto de un análisis profundo de la realidad del país, al problema ...
Ministerio de Salud Dirección de Salud Materno Infantil y y Población
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin +11 more
wiley +1 more source
In Vitro Modeling of Natural Killer Cell Cytotoxicity to Inform Personalized ALS Therapeutics
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Natural killer (NK) cells might contribute to motor neuron death in amyotrophic lateral sclerosis (ALS) through direct cytotoxicity, a process that could be inhibited with the FDA‐approved JAK/STAT pathway inhibitor, tofacitinib. This study aimed to verify that tofacitinib can suppress NK cell cytotoxicity, investigate if immune cell
Benjamin J. Murdock +8 more
wiley +1 more source
Alimentación Saludable: Buscando buena salud
EDIS, 2012 Hay diferentes Factores de Riesgo Nutricional que pueden afectar nuestra alimentación a medida que envejecemos. Es importante luchar contra estos factores de riesgo para tener una mejor alimentación. En esta “sopa de letras,” trate de encontrar palabras que son importantes para un estilo de vida saludable.
openaire +3 more sources
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont +4 more
wiley +1 more source