Results 61 to 70 of about 4,489 (215)
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
Revue d'anthropologie des connaissances, 2017 Les relations entre sciences sociales et études sociales des sciences et technologies (STS) sont fort complexes. Alors que, pour certains auteurs, l’inclusion des STS dans les sciences sociales est objet de disputes, d’autres ont tenté d’intéresser ...
Pablo Kreimer
doaj +1 more source
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Les transformations des sciences humaines et sociales en Russie
Revue Internationale d’Éducation de Sèvres, 2008 For more than 15 years, Russia has been experiencing a spectacular change in its economic, social and political system, and a no less significant evolution in higher education and research.
Liudmila Pipiya
doaj +1 more source
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
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
Sciences de l'esprit et sciences sociales : des liaisons dangereuses ?
Sociologies, 2012 The first objective of this paper is to shed light on the advantages of a naturalistic approach for social sciences and to show that Laurence Kaufmann and Laurent Cordonier cannot be accused of reductionism.
Fabrice Clément
doaj
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Les apports théoriques d’une synthèse ambitieuse.
EspacesTemps.netLa récente publication de Bernard Lahire sur les structures fondamentales des sociétés humaines constitue une contribution d’ampleur témoignant d’une ambition forte pour les sciences sociales.
Igor Moullier, Hélène Noizet
doaj +1 more source