Results 121 to 130 of about 608,167 (352)
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco+18 more
wiley +1 more source
Para muchas generaciones ha sido un sueño el deseo de poder vivir más años. Hoy día, muchas personas han visto cumplido este anhelo ya que ha habido un avance en la ciencia y en la medicina, paralelo a un desarrollo social tanto a través del progreso de polí ticas sociales como de los servicios prestados por el Sistema Nacional de Salud, que han
Comino Sanz, Inés María+1 more
openaire +1 more source
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann+6 more
wiley +1 more source
Normas para la presentación de trabajos
Escuela Salud Pública
doaj +1 more source
Vida natural y catholica medicina segura para mantener menos enferma la organizacion del cuerpo, y assegurar al alma la eterna salud... [PDF]
Diego de Torres Villarroel+3 more
openalex +1 more source
COVID-19, una emergencia de salud pública mundial
M. Palacios Cruz+3 more
semanticscholar +1 more source
Memoria de las experiencias adquiridas y de las observaciones realizadas durante el periodo formativo y en las prácticas docentes del Máster en Formación del Profesorado de Educación Secundaria Obligatoria, Bachillerato y Formación Profesional de la Universidad de Oviedo.
openaire +2 more sources
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas+18 more
wiley +1 more source
Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan+12 more
wiley +1 more source