Results 91 to 100 of about 10,061 (266)
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
Qui a peur des sciences sociales ? Actes de la recherche en sciences sociales, (Septembre 2022)
إنسانيات, 2023 Mustapha Haddab
doaj +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
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
Tangles in the social sciences
CoRR, 2019 Traditional clustering identifies groups of objects that share certain qualities. Tangles do the converse: they identify groups of qualities that often occur together. They can thereby identify and discover 'types': of behaviour, views, abilities, dispositions.
openaire +2 more sources
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
Die Soziologie: Gegenstand und Methode (1901)
Trivium, 2021 Paul Fauconnet, Marcel Mauss
doaj +1 more source
Problematic Internet Use in Frontotemporal Dementia: A Case Series
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso +9 more
wiley +1 more source