Publications associées à Syndrome de délétion 22q11.2

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Olaf Blanke, Maude Schneider, Nathan Quentin Faivre, Roy Salomon, Oliver Alan Kannape, Mariia Kaliuzhna, Henrique Galvan Debarba

Schizophrenia is a chronic and disabling mental illness characterized by a disordered sense of self. Current theories suggest that deficiencies in the sense of control over one’s actions (Sense of Agency, SoA) may underlie some of the symptoms of schizophr ...

2022

Exploring associations between diurnal cortisol, stress, coping and psychopathology in adolescents and young adults with 22q11.2 deletion syndrome

Maria del Carmen Sandi Perez, Olivia Zanoletti, Maude Schneider, Farnaz Delavari

Background: 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated to a high risk for psychiatric disorders, including psychosis. Individuals with 22q11DS are thought to experience increased levels of chronic stress, which could lead to ...

2022

Neural substrates of psychosis revealed by altered dependencies between brain activity and white-matter architecture in individuals with 22q11 deletion syndrome

Dimitri Nestor Alice Van De Ville, Maria Giulia Preti, Farnaz Delavari, Karin Bortolin, Emeline Mullier

Background: Dysconnectivity has been consistently proposed as a major key mechanism in psychosis. Indeed, disruptions in large-scale structural and functional brain networks have been associated with psychotic symptoms. However, brain activity is largely c ...

ELSEVIER SCI LTD2022

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability

Dimitri Nestor Alice Van De Ville, Marie Schaer

How the brain's white-matter anatomy constrains brain activity is an open question that might give insights into the mechanisms that underlie mental disorders such as schizophrenia. Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental dis ...

WILEY2021

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Dimitri Nestor Alice Van De Ville, Maude Schneider, Farnaz Delavari, Daniela Maria Zöller, Karin Bortolin

BACKGROUND: Hippocampal alterations are among the most replicated neuroimaging findings across the psychosis spectrum. Moreover, there is strong translational evidence that preserving the maturation of hippocampal networks in mice models prevents the progr ...

ELSEVIER SCIENCE INC2021

Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

Maude Schneider, Marie Schaer, Daniela Maria Zöller, Maria Carmela Padula

Schizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring in preclinical phases remain unclear. With a h ...

2021

Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity

Elpida Tsika, Darren Moore, Xi Chen

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of late-onset, autosomal-dominant familial Parkinson's disease (PD). LRRK2 functions as both a kinase and GTPase, and PD-linked mutations are known to influence both enzymatic acti ...

NATL ACAD SCIENCES2020

Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations

Maude Schneider, Marie Schaer

BACKGROUND: Several studies in patients with schizophrenia have demonstrated an abnormal thalamic volume and thalamocortical connectivity. Specifically, hyperconnectivity with somatosensory areas has been related to the presence of auditory hallucinations ...

ELSEVIER2020

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Syndrome de délétion 22q11.2

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Exploring associations between diurnal cortisol, stress, coping and psychopathology in adolescents and young adults with 22q11.2 deletion syndrome

Neural substrates of psychosis revealed by altered dependencies between brain activity and white-matter architecture in individuals with 22q11 deletion syndrome

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

A method for fast automated assessment of the magnetic resonance parkinsonism index

Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity

Hallucination Engineering: From Neuroscience Robotics to Hallucinations in Health and Disease

Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations

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Chattez avec Graph Search

Dysmaturation Observed as Altered Hippocampal Functional Connectivity at Rest Is Associated With the Emergence of Positive Psychotic Symptoms in Patients With 22q11 Deletion Syndrome

Exploring associations between diurnal cortisol, stress, coping and psychopathology in adolescents and young adults with 22q11.2 deletion syndrome

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability

A method for fast automated assessment of the magnetic resonance parkinsonism index

Dopaminergic neurodegeneration induced by Parkinson's disease-linked G2019S LRRK2 is dependent on kinase and GTPase activity

Hallucination Engineering: From Neuroscience Robotics to Hallucinations in Health and Disease

Abnormal Development and Dysconnectivity of Distinct Thalamic Nuclei in Patients With 22q11.2 Deletion Syndrome Experiencing Auditory Hallucinations

Neural substrates of psychosis revealed by altered dependencies between brain activity and white-matter architecture in individuals with 22q11 deletion syndrome