Results 101 to 110 of about 120,829 (311)
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
Huli yanjiu, 2004 Objective: to probe into the influence of sociality skills training on sociality anxiety in schizophrenia patients at convalescent stage. Method: a total of 68 patients with schizophrenia at convalescent stage were randomly divided into test group and ...
王玉婷 +5 more
doaj
Nature CommunicationsImpaired ion channels regulating Golgi pH lead to structural alterations in the Golgi apparatus, such as fragmentation, which is found, along with cognitive impairment, in Alzheimer’s disease.
Hyunji Kang +16 more
doaj +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
The sociality of walking: A post-phenomenological study on everyday walking among parents in Québec
SSM: Qualitative Research in HealthThe lack of sociality – or social relationships – has consequences for health, especially for parents for whom raising a child takes a village. Walking has long been credited with promoting sociality.
Julie Karmann +4 more
doaj +1 more source
Working Consumers: The Next Step in Marketing Theory? [PDF]
In marketing and consumer research, consumers have been increasingly theorised as producers. However, these theorisations do not take all facets of consumers’ productive role into account.
Cova, Bernard, Dalli, Daniele
core +1 more source
Road Pricing and Older People: An In-depth Study of Attitudes, Pro-Social Values and Social Norms. [PDF]
, 2016 Understanding the socio-psychological mechanisms that determine the public acceptability of road pricing could be a key for its implementation in urban environments where this is a viable scenario.
Avineri, Erel +2 more
core
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
Digital identities: tracing the implications for learners and learning [PDF]
, 2009 This is the fourth in a series of seminars, funded by the Economic and Social Research Council, to examine ‘The educational and social impact of new technologies on young people in Britain’.
core
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