Results 11 to 20 of about 4,140 (159)
A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration. [PDF]
Ann Clin Transl NeurolABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Rubio-Guerra S +17 more
europepmc +2 more sources
Characteristics of subjective cognitive decline associated with amyloid positivity
Alzheimer's &Dementia, Volume 18, Issue 10, Page 1832-1845, October 2022., 2022 Abstract Introduction The evidence for characteristics of persons with subjective cognitive decline (SCD) associated with amyloid positivity is limited. Methods In 1640 persons with SCD from 20 Amyloid Biomarker Study cohort, we investigated the associations of SCD‐specific characteristics (informant confirmation, domain‐specific complaints, concerns ...
Olin Janssen +63 more
wiley +1 more source
Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 5, Issue 1, Page 597-609, 2019., 2019 Abstract Introduction The SPIN (Sant Pau Initiative on Neurodegeneration) cohort is a multimodal biomarker platform designed for neurodegenerative disease research following an integrative approach. Methods Participants of the SPIN cohort provide informed consent to donate blood and cerebrospinal fluid samples, receive detailed neurological and ...
Daniel Alcolea +40 more
wiley +1 more source
Benzotiazoles sustituidos y sus aplicaciones terapéuticas para el tratamiento de enfermedades humanas [PDF]
, 2013 La presente invención se refiere a una familia de benzotialoles diferentemente sustituidos que presentan actividad inhibitoria de la enzima caseína quinasa 1 (CK-1), por lo que son útiles para el tratamiento o prevención de enfermedades mediadas por
Italiano, Claire Marie +8 more
core +2 more sources
Estudio preliminar de la usabilidad de tres tamaños de teclados basados en Interfaces Cerebro-Computador por pacientes con ELA [PDF]
, 2019 En referencia a los teclados basados en Interfaces Cerebro Computador que utilizan el biopotencial P300 como señal de control, el tamaño óptimo para personas con discapacidad motora no se ha presentado propiamente.
Fernández-Rodríguez, Álvaro +3 more
core +2 more sources
Neurología, 2018 Resumen: Introducción: El conocimiento del alcance socioeconómico de la patología neuromuscular es esencial para la planificación de recursos y la concienciación social.
A. Camacho, J. Esteban, C. Paradas
doaj +1 more source
Descripción de las alteraciones podológicas en pacientes con Esclerosis Lateral Amiotrófica [PDF]
, 2017 Treball Final de Grau de Podologia, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, curs: 2016-2017, Tutor: Mònica PovedanoEste estudio ha sido diseñado para valorar las diferentes alteraciones podológicas que se encuentran ...
Flores González, Marta
core
Neurología (English Edition), 2018 Introduction: A thorough knowledge of the socioeconomic scope of neuromuscular disease is essential for managing resources and raising social awareness. Development: Our group reviewed current data on the epidemiology, mortality and dependence rates, and
A. Camacho, J. Esteban, C. Paradas
doaj +1 more source
El cuidado, parte fundamental en la esclerosis lateral amiotrófica [PDF]
, 2016 La Esclerosis Lateral Amiotrófica (ELA) es una enfermedad degenerativa y de curso progresivo, que afecta a la médula espinal, tronco y corteza cerebral lo que se traduce en la pérdida de la función en varios dominios.
Marcos Jiménez, Noemí
core
Mortalidade por esclerose lateral amiotrófica no município de São Paulo de 2002 a 2006 [PDF]
, 2011 OBJECTIVE: To describe the mortality rates of amyotrophic lateral sclerosis (ALS) in the city of São Paulo as a function of demographics, year, and region. METHOD: This was a retrospective descriptive study.
Conde, Mônica Tilli Reis Pessoa +6 more
core +2 more sources