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  1. Article ; Online: Novel Genetic and Phenotypic Expansion in Ameliorated

    Baum, Emily / Huang, Wenming / Vincent-Delorme, Catherine / Brunelle, Perrine / Antebi, Adam / Dafsari, Hormos Salimi

    International journal of molecular sciences

    2024  Volume 25, Issue 4

    Abstract: Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene ( ...

    Abstract Heterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene (
    MeSH term(s) Humans ; Coloboma ; Mutation, Missense ; Neurodevelopmental Disorders/genetics ; Phenotype ; RNA Splicing Factors/genetics
    Chemical Substances RNA Splicing Factors ; poly-U binding splicing factor 60KDa
    Language English
    Publishing date 2024-02-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms25042053
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  2. Book ; Online ; Thesis: On the relationship of apraxia, body structural description, and judgement of plausibility in left-hemispheric stroke

    Dafsari, Hormos Salimi / Weiß-Blankenhorn, Peter H. / Schröder, Hansjörg

    2017  

    Institution Universitätsklinikum Köln / Klinik und Poliklinik für Neurologie
    Author's details vorgelegt von Hormos Salimi Dafsari ; 1. Berichterstatter: Universitätsprofessor Dr. med. P. H. Weiß-Blankenhorn, 2. Berichterstatter: Universitätsprofessor Dr. med. H. Schröder ; aus dem Zentrum für Neurologie und Psychiatrie der Universität zu Köln, Klinik und Poliklinik für Neurologie
    Subject code 610
    Language English
    Size 1 Online-Ressource (129 Seiten), Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2016
    Note Zusammenfassung in deutscher und englischer Sprache ; Open Access
    HBZ-ID HT019255457
    DOI 10.4126/FRL01-006401858
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  3. Book ; Thesis: On the relationship of apraxia, body structural description, and judgement of plausibility in left-hemispheric stroke

    Dafsari, Hormos Salimi / Weiß-Blankenhorn, Peter H. / Schröder, Hansjörg

    2017  

    Institution Universitätsklinikum Köln / Klinik und Poliklinik für Neurologie
    Author's details vorgelegt von Hormos Salimi Dafsari ; 1. Berichterstatter: Universitätsprofessor Dr. med. P. H. Weiß-Blankenhorn, 2. Berichterstatter: Universitätsprofessor Dr. med. H. Schröder ; aus dem Zentrum für Neurologie und Psychiatrie der Universität zu Köln, Klinik und Poliklinik für Neurologie
    Subject code 610
    Language English
    Size 130 Seiten, Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2016
    Note Zusammenfassung in deutscher und englischer Sprache
    HBZ-ID HT019272481
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2017 D 253 order for loan Magazin

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  4. Article: Atopy and Elevation of IgE, IgG3, and IgG4 May Be Risk Factors for Post COVID-19 Condition in Children and Adolescents.

    Körner, Robert Walter / Bansemir, Ole Yannick / Franke, Rosa / Sturm, Julius / Dafsari, Hormos Salimi

    Children (Basel, Switzerland)

    2023  Volume 10, Issue 10

    Abstract: SARS-CoV-2 infection causes transient cardiorespiratory and neurological disorders, and severe acute illness is rare among children. Post COVID-19 condition (PCC) may cause profound, persistent phenotypes with increasing prevalence. Its manifestation and ...

    Abstract SARS-CoV-2 infection causes transient cardiorespiratory and neurological disorders, and severe acute illness is rare among children. Post COVID-19 condition (PCC) may cause profound, persistent phenotypes with increasing prevalence. Its manifestation and risk factors remain elusive. In this monocentric study, we hypothesized that atopy, the tendency to produce an exaggerated immunoglobulin E (IgE) immune response, is a risk factor for the manifestation of pediatric PCC. We present a patient cohort (n = 28) from an early pandemic period (2021-2022) with comprehensive evaluations of phenotypes, pulmonary function, and molecular investigations. PCC predominantly affected adolescents and presented with fatigue, dyspnea, and post-exertional malaise. Sensitizations to aeroallergens were found in 93% of cases. We observed elevated IgE levels (mean 174.2 kU/L, reference < 100 kU/L) regardless of disease severity. Concurrent Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) was found in 29% of patients that also faced challenges in school attendance. ME/CFS manifestation was significantly associated with elevated immunoglobulin G subclasses IgG3 (
    Language English
    Publishing date 2023-09-25
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2732685-8
    ISSN 2227-9067
    ISSN 2227-9067
    DOI 10.3390/children10101598
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  5. Article ; Online: Genomic profiling in neuronal dyneinopathies and updated classifications.

    Dafsari, Hormos Salimi / Becker, Lena-Luise / von der Hagen, Maja / Cirak, Sebahattin

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 8, Page(s) 2607–2610

    MeSH term(s) Cytoplasmic Dyneins/genetics ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Neuromuscular Diseases/diagnosis ; Neuromuscular Diseases/genetics ; Neurons/metabolism ; Phenotype
    Chemical Substances DYNC1H1 protein, human ; Cytoplasmic Dyneins (EC 3.6.4.2)
    Language English
    Publishing date 2021-05-15
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62243
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Book ; Online ; Thesis: On the relationship of apraxia, body structural description, and judgement of plausibility in left-hemispheric stroke

    Dafsari, Hormos Salimi [Verfasser]

    2016  

    Author's details Hormos Salimi Dafsari
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language English
    Publisher Deutsche Zentralbibliothek für Medizin
    Publishing place Köln
    Document type Book ; Online ; Thesis
    Database Digital theses on the web

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  7. Article ; Online: Deficient body structural description contributes to apraxic end-position errors in imitation.

    Dafsari, Hormos Salimi / Dovern, Anna / Fink, Gereon R / Weiss, Peter H

    Neuropsychologia

    2019  Volume 133, Page(s) 107150

    Abstract: Apraxia is a common cognitive deficit after left hemisphere (LH) stroke. It has been suggested that a disturbed representation of the human body underlies apraxic imitation deficits. Thus, we here tested the hypothesis that a deficient body structural ... ...

    Abstract Apraxia is a common cognitive deficit after left hemisphere (LH) stroke. It has been suggested that a disturbed representation of the human body underlies apraxic imitation deficits. Thus, we here tested the hypothesis that a deficient body structural description (BSD), i.e., a deficient representation of a body part's position (relative to a standard human body), contributes to apraxic end-position errors in imitation, while controlling for deficits in the semantic representation of the human body (body image, BI) and naming deficits. A quantitative pointing task to assess putative BSD deficits and an apraxia assessment, including imitation and pantomime tasks, were applied to 27 patients with LH stroke and 19 healthy subjects. While LH stroke patients without apraxia (n=15) did not differ from control subjects in their pointing performance, patients suffering from imitation apraxia (n=10) showed a differential deficit when pointing to body parts of other humans compared to object parts. Voxel-based lesion symptom mapping (VLSM) revealed an association of these differential pointing deficits (indicating a deficient BSD) with lesions in the angular gyrus of the left inferior parietal cortex. This first quantitative group study of BSD deficits in LH stroke patients supports the notion that apraxic end-position errors in imitation are - at least in part - due to a deficient coding of the position of human body parts.
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Apraxias/diagnostic imaging ; Apraxias/etiology ; Apraxias/physiopathology ; Brain/diagnostic imaging ; Brain/physiopathology ; Case-Control Studies ; Female ; Humans ; Imitative Behavior/physiology ; Male ; Middle Aged ; Parietal Lobe/diagnostic imaging ; Parietal Lobe/physiopathology ; Stroke/complications ; Stroke/diagnostic imaging ; Stroke/physiopathology
    Language English
    Publishing date 2019-07-29
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 207151-4
    ISSN 1873-3514 ; 0028-3932
    ISSN (online) 1873-3514
    ISSN 0028-3932
    DOI 10.1016/j.neuropsychologia.2019.107150
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 524: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  8. Article ; Online: Novel Genetic and Phenotypic Expansion in

    Hentrich, Lea / Parnes, Mered / Lotze, Timothy Edward / Coorg, Rohini / de Koning, Tom J / Nguyen, Kha M / Yip, Calvin K / Jungbluth, Heinz / Koy, Anne / Dafsari, Hormos Salimi

    Genes

    2023  Volume 14, Issue 10

    Abstract: Biallelic variants in the Golgi SNAP receptor complex member 2 gene ( ...

    Abstract Biallelic variants in the Golgi SNAP receptor complex member 2 gene (
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Ataxia/genetics ; Dystonia ; Dystonic Disorders ; Mutation ; Myoclonic Epilepsies, Progressive/genetics ; Myoclonus ; Qb-SNARE Proteins/genetics ; Seizures
    Chemical Substances GOSR2 protein, human ; Qb-SNARE Proteins
    Language English
    Publishing date 2023-09-25
    Publishing country Switzerland
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14101860
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  9. Article ; Online: A multi-centre student survey on weighing disciplines in medical curricula - a pilot study.

    Dafsari, Hormos Salimi / Herzig, Stefan / Matthes, Jan

    GMS journal for medical education

    2017  Volume 34, Issue 2, Page(s) Doc24

    Abstract: Aim: ...

    Abstract Aim:
    MeSH term(s) Attitude of Health Personnel ; Career Choice ; Curriculum ; Education, Medical/organization & administration ; Faculty, Medical/organization & administration ; Germany ; Licensure, Medical ; Medicine ; Motivation ; Pilot Projects ; Students, Medical/psychology ; Surveys and Questionnaires
    Language English
    Publishing date 2017
    Publishing country Germany
    Document type Journal Article ; Multicenter Study
    ISSN 2366-5017
    ISSN (online) 2366-5017
    DOI 10.3205/zma001101
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  10. Article ; Online: Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.

    Almannai, Mohammed / Marafi, Dana / Zaki, Maha S / Maroofian, Reza / Efthymiou, Stephanie / Saadi, Nebal Waill / Filimban, Bilal / Dafsari, Hormos Salimi / Rahman, Fatima / Maqbool, Shazia / Faqeih, Eissa / Al Mutairi, Fuad / Alsharhan, Hind / Abdelaty, Omar / Bin-Hasan, Saadoun / Duan, Ruizhi / Noureldeen, Mahmoud M / Alqattan, Alaa / Houlden, Henry /
    Hunter, Jill V / Posey, Jennifer E / Lupski, James R / El-Hattab, Ayman W

    Clinical genetics

    2024  

    Abstract: PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present ...

    Abstract PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21-related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features.
    Language English
    Publishing date 2024-02-14
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14492
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