Franziska Radtke

Generation of 5 induced pluripotent stem cell lines with copy number variations in 22q11.2

Franziska Radtke, F. Abbasov, A. Chiocchetti, D. Gücsavas et autres

Copy number variations (deletions or duplications) in the 22q11.2 gene region are significantly correlated to a highly increased risk to develop mental disorder morbidity such as psychosis, attention-deficit/hyperactivity disorder (ADHD) or mood disorders. However, pathogenetic mechanisms are insufficiently understood. We generated iPSC …

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Olfaction and substantia nigra echogenicity in young individuals with 22q11.2 deletion syndrome, a population at high risk for dopaminergic neuropsychiatric disease

Franziska Radtke, Zuzana Fouskova, Julia Holweck, Marcel Romanos et autres

Abstract Purpose Individuals with 22q11.2 deletion syndrome (22q11.2DS) show a wide range of somatic features. The syndrome also leads to increased prevalence of neuropsychiatric disorders including schizophrenia, attention deficit hyperactivity disorder and early-onset Parkinson’s disease, presumably mediated by alterations in dopaminergic neurotransmission. …

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Olfaction and substantia nigra echogenicity in young individuals with 22q11.2 deletion syndrome, a population at high risk for dopaminergic neuropsychiatric disease

Franziska Radtke, Zuzana Fouskova, Julia Holweck, Marcel Romanos et autres

Abstract Purpose Individuals with 22q11.2 deletion syndrome (22q11.2DS) show a wide range of somatic features. The syndrome also leads to increased prevalence of neuropsychiatric disorders including schizophrenia, attention deficit hyperactivity disorder and early-onset Parkinson’s disease, presumably mediated by alterations in dopaminergic neurotransmission. …

de (code pays fourni par la source)

Olfaction and substantia nigra echogenicity in young individuals with 22q11.2 deletion syndrome, a population at high risk for dopaminergic neuropsychiatric disease

Franziska Radtke, Zuzana Fouskova, Julia Holweck, Marcel Romanos et autres

Abstract Purpose Individuals with 22q11.2 deletion syndrome (22q11.2DS) show a wide range of somatic features. The syndrome also leads to increased prevalence of neuropsychiatric disorders including schizophrenia, attention deficit hyperactivity disorder and early-onset Parkinson’s disease, presumably mediated by alterations in dopaminergic neurotransmission. …

de (code pays fourni par la source)

Additional file 1 of Olfaction and substantia nigra echogenicity in young individuals with 22q11.2 deletion syndrome, a population at high risk for dopaminergic neuropsychiatric disease

Franziska Radtke, Zuzana Fouskova, Julia Holweck, Marcel Romanos et autres

Supplementary Material 1. Supplementary Table1 Non-parametric testing regarding correlations of size of the echogenic area of the substantia nigra (SN_max_mean) and symptom scores of the Movement Disorder Society (MDS)-sponsored new version of the Unified Parkinson’s Disease Rating Scale (UPDRS) in the total …

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Additional file 1 of Olfaction and substantia nigra echogenicity in young individuals with 22q11.2 deletion syndrome, a population at high risk for dopaminergic neuropsychiatric disease

Franziska Radtke, Zuzana Fouskova, Julia Holweck, Marcel Romanos et autres

Supplementary Material 1. Supplementary Table1 Non-parametric testing regarding correlations of size of the echogenic area of the substantia nigra (SN_max_mean) and symptom scores of the Movement Disorder Society (MDS)-sponsored new version of the Unified Parkinson’s Disease Rating Scale (UPDRS) in the total …

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Generation of iPSC lines from an ADHD patient (UKWi008-A, UKWi008-A-1) and a healthy control (UKWi009-A, UKWi009-A-1)

Zora Schickardt, Julia Grüner, Deniz Gücsavas, Franziska Radtke et autres

Generation of iPSC lines from an ADHD patient (UKWi008-A, UKWi008-A-1) and a healthy control (UKWi009-A, UKWi009-A-1)

Zora Schickardt, Julia Grüner, Deniz Gücsavas, Franziska Radtke et autres

Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental condition with a complex polygenic architecture and an unclear etiology. Human induced pluripotent stem cells (iPSCs), which retain the donor's genetic background, provide a powerful model to study patient-specific cellular phenotypes in polygenic disorders. …

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Genetische Diagnostik bei Kindern und Jugendlichen mit psychischen Störungen

Franziska Degenhardt, Eva Wohlleber, Ingo Spitczok von Brisinski, Benedikt Godo et autres

Zusammenfassung: In Deutschland sind mittlerweile genetische Untersuchungen Teil einer leitliniengerechten diagnostischen Abklärung bei Patientinnen und Patienten mit Intelligenzminderung. Auch bei weiteren kinder- und jugendpsychiatrischen Störungsbildern sollte die Veranlassung genetischer Diagnostik in Erwägung gezogen werden, insbesondere wenn zusätzliche somatische Auffälligkeiten (z. B. angeborene …

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hiPSC-derived cortical neurons from ADHD individuals reveal dysregulated glutamatergic development

Rhiannon V. McNeill, Zora Schickardt, Franziska Radtke, Robert Blum et autres

Attention-deficit/hyperactivity disorder (ADHD) is a chronic neurodevelopmental disorder characterised by inattention, hyperactivity, and impulsivity, significantly impacting life quality and mortality. It is among the most heritable neuropsychiatric disorders, yet its aetiology remains unclear, hindering the development of novel medications. Previously, research has …

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Biomarkers in young individuals with 22q11.2 deletion syndrome, a population at high risk for dopaminergic neuropsychiatric disease

Franziska Radtke, Zuzana Fouskova, Julia Holweck, Marcel Romanos et autres

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Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature

Carina Sauter, Michael Hofbeck, Laura Kettenstock, Matthias J. Linhardt et autres

The 22q11.2 deletion syndrome (22q11.2DS) results from a heterozygous deletion at chromosomal locus 22q11.2 and is associated with multisystem symptoms, including cardiovascular, psychiatric and palatal manifestations. Although congenital cardiovascular aberrations are frequent in patients with 22q11.DS, exact prevalence figures remain unclear. Literature …

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