Publications related to Williams syndrome

Behavioral outcome of very preterm children at 5 years of age: Prognostic utility of brain tissue volumes at term-equivalent-age, perinatal, and environmental factors

Djalel Eddine Meskaldji, Laura Ioana Gui, Serafeim Loukas

ObjectivePrematurity is associated with a high risk of long-term behavioral problems. This study aimed to assess the prognostic utility of volumetric brain data at term-equivalent-age (TEA), clinical perinatal factors, and parental social economic risk in ...

WILEY2023

eNAMPT actions through nucleus accumbens NAD + /SIRT1 link increased adiposity with sociability deficits programmed by peripuberty stress

Johan Auwerx, Maria del Carmen Sandi Perez, Jocelin Grosse, Olivia Zanoletti, Simone Astori, João Pedro de Matos Rodrigues, Ioannis Zalachoras, Wei Huang, Sriparna Ghosal, Laia Morato Fornaguera, Lei Cao

Obesity is frequently associated with impairments in the social domain, and stress at puberty can lead to long-lasting changes in visceral fat deposition and in social behaviors. However, whether stress-induced changes in adipose tissue can affect fat-to-b ...

2022

Neural Compensation Mechanisms of Siblings of Schizophrenia Patients as Revealed by High-Density EEG

Michael Herzog, Maya Roinishvili, Ophélie Gladys Favrod, Patricia Figueiredo, Albulena Jashari-Shaqiri

Visual backward masking (VBM) deficits are candidate endophenotypes of schizophrenia indexing genetic liability of the disorder. In VBM, a target is followed by a mask that deteriorates target perception. Schizophrenia patients and, to a lesser extent, the ...

2020

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...

Assoc Research Vision Ophthalmology Inc2015

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

Dimitri Nestor Alice Van De Ville, Maude Schneider, Marie Schaer, Jonas Richiardi

The clinical picture associated with 22q11.2 deletion syndrome (22q11DS) includes mild mental retardation and an increased risk of schizophrenia. While the clinical phenotype has been related to structural brain network alterations, there is only scarce in ...

Springer Verlag2014

Schizophrenia and visual backward masking: a general deficit of target enhancement

Michael Herzog, Maya Roinishvili

The obvious symptoms of schizophrenia are of cognitive and psychopathological nature. However, schizophrenia affects also visual processing which becomes particularly evident when stimuli are presented for short durations and are followed by a masking stim ...

Frontiers Research Foundation2013

Diagnosis of muscular dystrophies at the nanometer scale

Andrzej Kulik, Thibault Adrien Kuntzer, Stefania Puttini

The diagnosis of muscular dystrophies or the assessment of the functional benefit of gene or cell therapies can be difficult, especially for poorly accessible muscles, and it often lacks a single-fiber resolution. In the present study, we evaluated whether ...

World Muscular Society / Elsevier2009

Anosognosia for motor and sensory deficits after unilateral brain damage: a review

Roberta Ronchi, Giuseppe Vallar

PURPOSE: The syndrome of unawareness (anosognosia) for sensory and motor neurological deficits (hemiplegia, hemianaesthesia, and hemianopia), contralateral to the side of a hemispheric lesion, is reviewed. CONTENT: Main topics include: basic historical fac ...

IOS Press2006

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Williams syndrome

Behavioral outcome of very preterm children at 5 years of age: Prognostic utility of brain tissue volumes at term-equivalent-age, perinatal, and environmental factors

eNAMPT actions through nucleus accumbens NAD + /SIRT1 link increased adiposity with sociability deficits programmed by peripuberty stress

Neural Compensation Mechanisms of Siblings of Schizophrenia Patients as Revealed by High-Density EEG

Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

Schizophrenia and visual backward masking: a general deficit of target enhancement

Diagnosis of muscular dystrophies at the nanometer scale

Abnormal patterns of cortical gyrification in velo-cardio-facial syndrome (deletion 22q11.2): an MRI study

Anosognosia for motor and sensory deficits after unilateral brain damage: a review

Increased focal interictal discharges during specific cognitive tasks

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Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy

Behavioral outcome of very preterm children at 5 years of age: Prognostic utility of brain tissue volumes at term-equivalent-age, perinatal, and environmental factors

Identifying 22q11.2 Deletion Syndrome and Psychosis Using Resting-State Connectivity Patterns

Abnormal patterns of cortical gyrification in velo-cardio-facial syndrome (deletion 22q11.2): an MRI study

Neural Compensation Mechanisms of Siblings of Schizophrenia Patients as Revealed by High-Density EEG

Anosognosia for motor and sensory deficits after unilateral brain damage: a review

Increased focal interictal discharges during specific cognitive tasks

Schizophrenia and visual backward masking: a general deficit of target enhancement

Diagnosis of muscular dystrophies at the nanometer scale

eNAMPT actions through nucleus accumbens NAD + /SIRT1 link increased adiposity with sociability deficits programmed by peripuberty stress