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  1. Book: Neurogenetik

    Rieß, Olaf

    molekulargenetische Diagnostik neurologischer und psychiatrischer Erkrankungen

    2002  

    Author's details Olaf Rieß ... (Hrsg.)
    Keywords Nervensystem ; Krankheit ; Erbkrankheit ; Molekulargenetik ; Genanalyse
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Erkrankung ; Krankheitszustand ; Krankheiten ; Morbus ; Nosos ; Pathos ; Systema nervosum ; NS ; Gen ; Genetischer Test ; Gentest ; Genomanalyse ; Genom ; Genetische Analyse ; Gendiagnostik ; Genomsequenzierung ; Molekulare Genetik ; Biochemische Genetik
    Language German
    Size XVI, 622 S. : Ill., graph. Darst.
    Edition 2., völlig überarb. und erw. Aufl.
    Publisher Kohlhammer
    Publishing place Stuttgart u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT013290353
    ISBN 3-17-017098-8 ; 978-3-17-017098-8
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2002 A 4567 order for loan Magazin

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  2. Book: Neurogenetik

    Rieß, Olaf

    molekulargenetische Diagnostik neurologischer Erkrankungen ; mit 53 Tabellen

    1998  

    Author's details O. Rieß ... (Hrsg.)
    Keywords Nervensystem ; Krankheit ; Erbkrankheit ; Molekulargenetik ; Genanalyse
    Subject Genetische Krankheit ; Heredopathie ; Genetisch bedingte Krankheit ; Genetisches Syndrom ; Erbkrankheiten ; Erkrankung ; Krankheitszustand ; Krankheiten ; Morbus ; Nosos ; Pathos ; Systema nervosum ; NS ; Gen ; Genetischer Test ; Gentest ; Genomanalyse ; Genom ; Genetische Analyse ; Gendiagnostik ; Genomsequenzierung ; Molekulare Genetik ; Biochemische Genetik
    Language German
    Size XVI, 432 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place Berlin u.a.
    Document type Book
    HBZ-ID HT009064855
    ISBN 3-540-63874-1 ; 978-3-540-63874-2
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1998 A 7634 order for loan Magazin

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  3. Book ; Thesis: Gene von Chromosom 4 des Menschen als Kandidaten für die Auslösung von Erkrankungen

    Rieß, Olaf

    1993  

    Author's details Olaf Rieß
    Language German ; English
    Size Getr. Zählung : Ill., graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Bochum, Univ., Habil.-Schr., 1994
    HBZ-ID HT008507086
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    98 E 1555 order for loan Magazin

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  4. Book ; Online ; Thesis: Die Analyse von Einzelnukleotid-Polymorphismen in APOE und CAST als modifizierende Faktoren der Spinocerebellären Ataxie Typ 3

    Burger, Rahel Maria [Verfasser] / Rieß, Olaf [Akademischer Betreuer]

    2024  

    Author's details Rahel Maria Burger ; Betreuer: Olaf Rieß
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek Tübingen
    Publishing place Tübingen
    Document type Book ; Online ; Thesis
    Database Digital theses on the web

    Full text online

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  5. Book ; Thesis: DNA-Analyse von Phenylketonuriefamilien mit einer menschlichen Phenylalaninhydroxylase-cDNA-Sonde zur Einführung der genomischen pränatalen Diagnostik bei der PKU

    Rieß, Olaf

    1989  

    Size 130, 4 Bl. : Ill., graph. Darst.
    Publishing country XA-DDDE
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Berlin, Humboldt-Univ., Diss., 1989
    HBZ-ID HT003353156
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    89 E 2082 order for loan Magazin

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  6. Book ; Online ; Thesis: The Role of Calpains in the Molecular Pathogenesis of Spinocerebellar Ataxia Type 17

    Anger, Stefanie Cari [Verfasser] / Rieß, Olaf [Akademischer Betreuer]

    2023  

    Author's details Stefanie Cari Anger ; Betreuer: Olaf Rieß
    Keywords Biowissenschaften, Biologie ; Life Science, Biology
    Subject code sg570
    Language English
    Publisher Universitätsbibliothek Tübingen
    Publishing place Tübingen
    Document type Book ; Online ; Thesis
    Database Digital theses on the web

    Full text online

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  7. Book: NGFN-Plus IG: Functional genomics of Parkinson´s disease

    Riess, Olaf

    Teilprojekt 8: Einfluss von Calpain auf die Proteolyse von alpha-Synuklein und in der Pathogenese des Parkinson-Syndroms in vivo ; Schlussbericht ; Laufzeit des Vorhabens: 01.06.2008 - 31.08.2013 = Impact of calpain on the proteolysis of a-synuclein and in the pathogenesis of Parkinson´s disease in vivo

    2013  

    Author's details Universität Tübingen, Institut für Medizinische Genetik und Angewandte Genomik. Teilprojektleiter: Olaf Riess
    Language German
    Size [6] S.
    Publishing place Tübingen
    Document type Book
    Note Förderkennzeichen BMU 01GS08134-8. - Verbund-Nr. 01063374
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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  8. Book ; Online: NGFN-Plus IG: Functional genomics of Parkinson´s disease, Teilprojekt 8: Einfluss von Calpain auf die Proteolyse von alpha-Synuklein und in der Pathogenese des Parkinson-Syndroms in vivo

    Riess, Olaf

    Schlussbericht ; Laufzeit des Vorhabens: 01.06.2008 - 31.08.2013 = Impact of calpain on the proteolysis of alpha-synuclein and in the pathogenesis of Parkinson´s disease in vivo

    2013  

    Institution Universitätsklinikum Tübingen / Institut für Medizinische Genetik und angewandte Genomik
    Author's details Universität Tübingen, Institut für Medizinische Genetik und Angewandte Genomik. TP8 Teilprojektleiter: Olaf Riess
    Language German
    Size Online-Ressource (PDF-Datei: 6 S., 47 KB)
    Publisher Techn. Informationsbibl. und Univ.-Bibl
    Publishing place Hannover ; Tübingen
    Document type Book ; Online
    Note Förderkennzeichen BMBF 01GS08134-8. - Verbund-Nr. 01063374 ; Unterschiede zwischen dem gedruckten Dokument und der elektronischen Ressource können nicht ausgeschlossen werden
    Database Library catalogue of the German National Library of Science and Technology (TIB), Hannover

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    Inter-library loan at ZB MED

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  9. Article ; Online: A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

    Grosch, Sarah / Kehrer, Martin / Riess, Olaf / Bevot, Andrea / Haack, Tobias B

    Molecular genetics & genomic medicine

    2023  Volume 12, Issue 1, Page(s) e2310

    Abstract: Background: Bi-allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report on a 6 1/2-year-old girl with a ... ...

    Abstract Background: Bi-allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report on a 6 1/2-year-old girl with a history of global developmental delay, subsequent intellectual disability without relevant language acquisition, sensorineural hearing loss, muscular hypotonia and microcephaly.
    Methods: We performed trio exome sequencing on the patient and her parents.
    Results: Trio exome sequencing revealed likely pathogenic compound heterozygous missense variants in AFG2B [c.527G>T, p.(Gly176Val) and c.1313T>C, p.(Leu438Pro)] in the patient.
    Conclusion: Of note, the change c.1313T>C, p.(Leu438Pro) has been observed in a previously published patient as part of a complex disease allele along with a second homozygous missense change, so the exact contribution of the two alterations to this patient's disease had initially remained unclear. Our results support the pathogenic relevance of the c.1313T>C, p.(Leu438Pro) allele while providing detailed insights into the disease manifestation of a further patient.
    MeSH term(s) Humans ; Female ; Middle Aged ; Microcephaly/genetics ; Microcephaly/pathology ; Virulence ; Neurodevelopmental Disorders/genetics ; Nervous System Malformations ; Deafness
    Language English
    Publishing date 2023-10-30
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.2310
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Reply to: "Comment on: Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood".

    Hübener-Schmid, Jeannette / Kuhlbrodt, Kirsten / Peladan, Julien / Rieß, Olaf

    Movement disorders : official journal of the Movement Disorder Society

    2022  Volume 37, Issue 5, Page(s) 1121–1122

    MeSH term(s) Ataxin-3/genetics ; Humans ; Machado-Joseph Disease/genetics ; Nuclear Proteins ; Peptides
    Chemical Substances Nuclear Proteins ; Peptides ; polyglutamine (26700-71-0) ; Ataxin-3 (EC 3.4.19.12)
    Language English
    Publishing date 2022-05-19
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 607633-6
    ISSN 1531-8257 ; 0885-3185
    ISSN (online) 1531-8257
    ISSN 0885-3185
    DOI 10.1002/mds.29003
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2555: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 238: Show issues

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