Social and economic decision-making in Urbach-Wiethe Disease [PDF]
, 2020 Background: Rodent and primate research have identified the basolateral amygdala as indispensable for social decision-making. This finding has not yet been translated to humans, and has even been partially contradicted by previous findings in patients ...
Fourie, Jorique
core +1 more source
Amygdala lesions do not compromise the cortical network for false-belief reasoning [PDF]
, 2014 The amygdala plays an integral role in human social cognition and behavior, with clear links to emotion recognition, trust judgments, anthropomorphization, and psychiatric disorders ranging from social phobia to autism.
Adolphs, Ralph +5 more
core +3 more sources
Enfermedad de Urbach-Wiethe: presentación de un caso con afectación bucal tratado con láser de CO2 [PDF]
, 2015 Se presenta un caso de enfermedad de Urbach-Wiethe o lipoidoproteinosis con extensas lesiones orales que dificultaban la masticación. Se efectuó un remodelado gingival con fotobisturí de láser C02 en dos tiempos, con lo que se obtuvo un resultado ...
Berini Aytés, Leonardo +3 more
core
Випадок орфанного синдрому гіалінового фіброматозу в Україні [PDF]
, 2023 Синдром гіалінового фіброматозу є рідкісним, дуже серйозним, аутосомно-рецесивним мультисистемним розладом. В основі захворювання лежить аномальне дифузне відкладення гіалінового матеріалу в сполучній тканині і внутрішніх органах.
Klochko, A. +23 more
core +1 more source
Molecular characterisation of the extracellular matrix protein 1 gene in lipoid proteinosis in South Africa [PDF]
, 2006 Faculty of Health Science Degree of Master of Science in Human Genetics 9809684wLipoid proteinosis (LP) (OMIM 247100) is a rare autosomal recessive disorder that is caused by mutations within the extracellular matrix protein 1 gene (ECM1).
van Hougenhouck-Tulleken, George, Wesley
core
A uniform human multimodal dataset for emotion perception and judgment [PDF]
, 2023 Face perception is a fundamental aspect of human social interaction, yet most research on this topic has focused on single modalities and specific aspects of face perception.
Cao, Runnan +4 more
core +2 more sources
Assessing allele-specific expression across multiple tissues from RNA-seq read data [PDF]
, 2017 Motivation: RNA sequencing enables allele-specific expression (ASE) studies that complement standard genotype expression studies for common variants and, importantly, also allow measuring the regulatory impact of rare variants.
Dermitzakis, Emmanouil T. +6 more
core
A rare genetic disorder encountered in dentistry: a case of lipoid proteinosis [PDF]
Lipoid proteinosis disease is a rare autosomal recessive genodermatosis first described by Urbach and Wiethe in 1929. This disease occurs as a result of homozygous or compound heterozygous mutations in the ECM1 gene located in the 1q21 chromosome region.
Dogan, Mehmet Sinan +2 more
core +2 more sources
Does bilateral damage to the human amygdala produce autistic symptoms? [PDF]
, 2010 A leading neurological hypothesis for autism postulates amygdala dysfunction. This hypothesis has considerable support from anatomical and neuroimaging studies.
Paul, Lynn K. +3 more
core +1 more source
Mucous-cutaneuos hyalinosis : the clinical and histocompatibility antigens study [PDF]
, 2018 Orientador: Heron Fernando de Sousa GonzagaTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Odontologia de PiracicabaResumo: A hialinose cutâneo-mucosa (HCM) é uma dermatose autossômica recessiva rara, congênita, de aparecimento precoce
Rodrigues, Marcelo
core