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  1. Book ; Thesis: Uncovering vesicular trafficking defects underlying PLS3

    Nolte, Franziska / Wirth, Brunhilde / Semler, Jörg Oliver

    mediated osteoclast dysfunction

    2022  

    Institution Institut für Humangenetik
    Author's details vorgelegt von Franziska Nolte ; 1. Gutachterin: Universitätsprofessorin Dr. rer. nat. B.I. Wirth, 2. Gutachterin: Professor Dr. med. J.O. Semler ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language English
    Size 142 Blätter, Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2022
    HBZ-ID HT021593690
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2022 D 545 order for loan Magazin

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  2. Book ; Thesis: Sphingosine-1-phospate receptor 1 and 2 as part of a possible affected pathway in spinal muscular atrophy and drug target for FTY720

    Hoffmann, Christian Ulrich Thomas / Wirth, Brunhilde / Plomann, Markus

    2020  

    Title variant Sphingosine-1-phosphate receptor 1 and 2 as part of a possible affected pathway in spinal muscular atrophy and drug target for FTY720
    Institution Institut für Humangenetik
    Author's details vorgelegt von Christian Ulrich Thomas Hoffmann ; 1. Gutachter/-in: Prof. Dr. rer. nat. Brunhilde Wirth, 2. Gutachter -in: PD Dr. Markus Plomann ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language English ; German
    Size 115 Seiten, Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2020
    Note Zusammenfassung in deutscher und englischer Sprache
    HBZ-ID HT020706054
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2021 D 47 order for loan Magazin

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  3. Article ; Online: Spinal Muscular Atrophy: In the Challenge Lies a Solution.

    Wirth, Brunhilde

    Trends in neurosciences

    2021  Volume 44, Issue 4, Page(s) 306–322

    Abstract: The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a highly challenging endeavor, but also led to one of the most successful stories in neurogenetics. In SMA, a neuromuscular disorder with an often fatal outcome until ... ...

    Abstract The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a highly challenging endeavor, but also led to one of the most successful stories in neurogenetics. In SMA, a neuromuscular disorder with an often fatal outcome until recently, with those affected never able to sit, stand, or walk, children now achieve these motoric abilities and almost age-based development when treated presymptomatically. This review summarizes the challenges along this 30-year journey. It is also meant to inspire early-career scientists not to give up when things become difficult but to try to uncover the biological underpinnings and transform the challenge into the next big discovery. Without doubt, the improvements seen with the three therapeutic strategies in SMA are impressive; many open questions remain and are discussed in this review.
    MeSH term(s) Child ; Humans ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy
    Language English
    Publishing date 2021-01-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 282488-7
    ISSN 1878-108X ; 0378-5912 ; 0166-2236
    ISSN (online) 1878-108X
    ISSN 0378-5912 ; 0166-2236
    DOI 10.1016/j.tins.2020.11.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1442: 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)
    Zs.MG 53: Show issues

    Order via subito

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  4. Book ; Thesis: Genetische Ursachen des Steroidresistenten Nephrotischen Syndroms

    Bamborschke, Daniel / Wirth, Brunhilde / Benzing, Thomas

    2017  

    Institution Institut für Humangenetik
    Author's details vorgelegt von Daniel Bamborschke ; 1. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. B. Wirth, 2. Berichterstatter: Universitätsprofessor Dr. med. T Benzing ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language German
    Size 124 Seiten, Diagramme, Illustrationen
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2017
    HBZ-ID HT019570452
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2018 D 103 order for loan Magazin

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  5. Book ; Online ; Thesis: Genetische Ursachen des Steroidresistenten Nephrotischen Syndroms

    Bamborschke, Daniel / Wirth, Brunhilde / Benzing, Thomas

    2017  

    Institution Institut für Humangenetik
    Author's details vorgelegt von Daniel Bamborschke ; 1. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. B. Wirth, 2. Berichterstatter: Universitätsprofessor Dr. med. T Benzing ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language German
    Size 1 Online-Ressource (124 Seiten), Diagramme, Illustrationen
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2017
    Note Open Access
    HBZ-ID HT019544216
    DOI 10.4126/FRL01-006405933
    Database Repository for Life Sciences

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  6. Book ; Thesis: Identification and characterization of neuromuscular disease-causing genes by next-generation sequencing technology

    Karakaya, Mert / Wirth, Brunhilde / Nürnberg, Peter / Kurth, Ingo

    2019  

    Institution Institut für Humangenetik
    Author's details vorgelegt von Mert Karakaya ; 1. Gutachterin: Universitätsprofessorin Dr. rer. nat. B. Wirth, 2. Gutachter: Universitätsprofessor Dr. rer. nat. P. Nürnberg, 3. Gutachcter: Universitätsprofessor Dr. med. I. Kurth ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language English
    Size 96 Seiten, Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2019
    Note Enthält Sonderabdrucke aus Zeitschriften ; Zusammenfassung in deutscher Sprache
    HBZ-ID HT020237733
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2019 D 909 order for loan Magazin

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  7. Book ; Thesis: Der Einfluss des Zellkernmembranproteins Nesprin-2 auf die Histongenexpression

    Mohr, Clara / Nögel, Angelika / Wirth, Brunhilde

    2015  

    Institution Universität zu Köln / Institut für Biochemie I
    Author's details vorgelegt von Clara Mohr ; 1. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. A. A. Noegel, 2. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. B. Wirth ; aus dem Zentrum für Biochemie (Medizinische Fakultät) der Universität zu Köln Institut für Biochemie I
    Subject code 610
    Language German
    Size 59 Seiten, Illustrationen
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Medizinische Fakultät der Universität zu Köln, 2015
    HBZ-ID HT018857848
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2016 D 44 order for loan Magazin

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  8. Book ; Online ; Thesis: Der Einfluss des Zellkernmembranproteins Nesprin-2 auf die Histongenexpression

    Mohr, Clara / Nögel, Angelika / Wirth, Brunhilde

    2015  

    Institution Universität zu Köln / Institut für Biochemie I
    Author's details vorgelegt von Clara Mohr ; 1. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. A. A. Noegel, 2. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. B. Wirth ; aus dem Zentrum für Biochemie (Medizinische Fakultät) der Universität zu Köln Institut für Biochemie I
    Subject code 610
    Language German
    Size 1 Online-Ressource (59 Seiten), Illustrationen
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Dissertation, Medizinische Fakultät der Universität zu Köln, 2015
    HBZ-ID HT018832534
    DOI 10.4126/FRL01-006399486
    Database Repository for Life Sciences

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  9. Book ; Thesis: Genetische Analyse von Patienten mit der klinischen Diagnose einer Motoneuron-Erkrankung mittels Genpanel-Sequenzierung und Exom-Sequenzierung

    Schmitz-Steinkrüger, Lea / Wirth, Brunhilde / Nürnberg, Peter

    2017  

    Institution Institut für Humangenetik
    Author's details vorgelegt von Lea Schmitz-Steinkrüger ; 1. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. B. Wirth, 2. Berichterstatter: Universitätsprofessor Dr. rer. nat. P. Nürnberg ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language German
    Size III, 153 Seiten, Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2017
    HBZ-ID HT019570180
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2018 D 99 order for loan Magazin

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  10. Book ; Online ; Thesis: Genetische Analyse von Patienten mit der klinischen Diagnose einer Motoneuron-Erkrankung mittels Genpanel-Sequenzierung und Exom-Sequenzierung

    Schmitz-Steinkrüger, Lea / Wirth, Brunhilde / Nürnberg, Peter

    2017  

    Institution Institut für Humangenetik
    Author's details vorgelegt von Lea Schmitz-Steinkrüger ; 1. Berichterstatterin: Frau Universitätsprofessor Dr. rer. nat. B. Wirth, 2. Berichterstatter: Universitätsprofessor Dr. rer. nat. P. Nürnberg ; aus dem Institut für Humangenetik der Universität zu Köln
    Subject code 610
    Language German
    Size 1 Online-Ressource (III, 153 Seiten), Illustrationen, Diagramme
    Publishing place Köln
    Publishing country Germany
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Dissertation, Universität zu Köln, 2017
    Note Open Access
    HBZ-ID HT019547683
    DOI 10.4126/FRL01-006406018
    Database Repository for Life Sciences

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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