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  1. Book ; Online ; E-Book: Diagnosis and management of mitochondrial disorders

    Mancuso, Michelangelo / Klopstock, Thomas

    2019  

    Author's details Michelangelo Mancuso, Thomas Klopstock editors
    Language English
    Size 1 Online-Ressource (viii, 382 Seiten), Illustrationen, Diagramme
    Publisher Springer
    Publishing place Cham
    Publishing country Switzerland
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT020062214
    ISBN 978-3-030-05517-2 ; 9783030055165 ; 3-030-05517-5 ; 3030055167
    DOI 10.1007/978-3-030-05517-2
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  2. Article ; Online: In Reply.

    Klopstock, Thomas

    Deutsches Arzteblatt international

    2022  Volume 119, Issue 16, Page(s) 296

    Language English
    Publishing date 2022-07-14
    Publishing country Germany
    Document type Letter ; Comment
    ZDB-ID 2406159-1
    ISSN 1866-0452 ; 1866-0452
    ISSN (online) 1866-0452
    ISSN 1866-0452
    DOI 10.3238/arztebl.m2022.0103
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Neuroimaging in mitochondrial disease.

    Distelmaier, Felix / Klopstock, Thomas

    Handbook of clinical neurology

    2023  Volume 194, Page(s) 173–185

    Abstract: The anatomic complexity of the brain in combination with its high energy demands makes this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation. Therefore, neurodegeneration is a hallmark of mitochondrial diseases. The ... ...

    Abstract The anatomic complexity of the brain in combination with its high energy demands makes this organ specifically vulnerable to defects of mitochondrial oxidative phosphorylation. Therefore, neurodegeneration is a hallmark of mitochondrial diseases. The nervous system of affected individuals typically shows selective regional vulnerability leading to distinct patterns of tissue damage. A classic example is Leigh syndrome, which causes symmetric alterations of basal ganglia and brain stem. Leigh syndrome can be caused by different genetic defects (>75 known disease genes) with variable disease onset ranging from infancy to adulthood. Other mitochondrial diseases are characterized by focal brain lesions, which is a core feature of MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes). Apart from gray matter, also white matter can be affected by mitochondrial dysfunction. White matter lesions vary depending on the underlying genetic defect and may progress into cystic cavities. In view of the recognizable patterns of brain damage in mitochondrial diseases, neuroimaging techniques play a key role in diagnostic work-up. In the clinical setting, magnetic resonance imaging (MRI) and MR spectroscopy (MRS) are the mainstay of diagnostic work-up. Apart from visualization of brain anatomy, MRS allows the detection of metabolites such as lactate, which is of specific interest in the context of mitochondrial dysfunction. However, it is important to note that findings like symmetric basal ganglia lesions on MRI or a lactate peak on MRS are not specific, and that there is a broad range of disorders that can mimic mitochondrial diseases on neuroimaging. In this chapter, we will review the spectrum of neuroimaging findings in mitochondrial diseases and discuss important differential diagnoses. Moreover, we will give an outlook on novel biomedical imaging tools that may provide interesting insights into mitochondrial disease pathophysiology.
    MeSH term(s) Humans ; Leigh Disease/diagnosis ; Leigh Disease/pathology ; Magnetic Resonance Imaging/methods ; Neuroimaging/methods ; Brain/pathology ; Mitochondrial Diseases/genetics ; MELAS Syndrome/diagnosis ; MELAS Syndrome/pathology ; Lactic Acid
    Chemical Substances Lactic Acid (33X04XA5AT)
    Language English
    Publishing date 2023-02-22
    Publishing country Netherlands
    Document type Review ; Journal Article
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-821751-1.00016-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Clinical trials in mitochondrial diseases.

    Karaa, Amel / Klopstock, Thomas

    Handbook of clinical neurology

    2023  Volume 194, Page(s) 229–250

    Abstract: Primary mitochondrial diseases are some of the most common and complex inherited inborn errors of metabolism. Their molecular and phenotypic diversity has led to difficulties in finding disease-modifying therapies and clinical trial efforts have been ... ...

    Abstract Primary mitochondrial diseases are some of the most common and complex inherited inborn errors of metabolism. Their molecular and phenotypic diversity has led to difficulties in finding disease-modifying therapies and clinical trial efforts have been slow due to multiple significant challenges. Lack of robust natural history data, difficulties in finding specific biomarkers, absence of well-validated outcome measures, and small patient numbers have made clinical trial design and conduct difficult. Encouragingly, new interest in treating mitochondrial dysfunction in common diseases and regulatory incentives to develop therapies for rare conditions have led to significant interest and efforts to develop drugs for primary mitochondrial diseases. Here, we review past and present clinical trials and future strategies of drug development in primary mitochondrial diseases.
    MeSH term(s) Humans ; Mitochondrial Diseases ; Mitochondria/metabolism
    Language English
    Publishing date 2023-02-22
    Publishing country Netherlands
    Document type Review ; Journal Article
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-821751-1.00002-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Kaplan-Meier Statistics to Estimate Treatment Success: Response.

    Silva, Magda / Llòria, Xavier / Klopstock, Thomas

    Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

    2022  Volume 43, Issue 4, Page(s) e361–e362

    MeSH term(s) Humans ; Treatment Outcome ; Kaplan-Meier Estimate
    Language English
    Publishing date 2022-05-24
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1189901-3
    ISSN 1536-5166 ; 1070-8022
    ISSN (online) 1536-5166
    ISSN 1070-8022
    DOI 10.1097/WNO.0000000000001628
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1670: 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 ; Thesis: Immunglobulingene des Menschen

    Klopstock, Thomas

    Sequenzanalyse zweier V K-Gensegmente

    1991  

    Author's details vorgelegt von Thomas Klopstock
    Size [3], 67 S. : Ill., graph. Darst.
    Document type Book ; Thesis
    Thesis / German Habilitation thesis München, Univ., Diss., 1991
    HBZ-ID HT003948111
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    91 D 5776 order for loan Magazin

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  7. Article: Editorial: Advances in Therapeutics for Hyperkinetic Movement Disorders.

    Klopstock, Thomas / Hall, Deborah / Frucht, Steven / Flamand-Roze, Emmanuel

    Frontiers in neurology

    2022  Volume 13, Page(s) 853084

    Language English
    Publishing date 2022-02-24
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2022.853084
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Mitochondriale Erkrankungen.

    Radelfahr, Florentine / Klopstock, Thomas

    Der Nervenarzt

    2019  Volume 90, Issue 2, Page(s) 121–130

    Abstract: Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic ... ...

    Title translation Mitochondrial diseases.
    Abstract Mitochondrial diseases (MD) are caused by mutations in the mitochondrial DNA or nuclear DNA. The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Therapeutic approaches for MD include bridging of respiratory chain defects, pharmacological stimulation of mitochondrial metabolism, supplementation of deficient factors and symptomatic treatment. Initial gene therapeutic approaches for causal treatment have already reached the clinical development stage. This article provides an introduction to MD, a summary of the most important syndromes and an overview over established and innovative therapeutic approaches.
    MeSH term(s) DNA, Mitochondrial/genetics ; Genetic Therapy ; Humans ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/therapy ; Mitochondrial Encephalomyopathies/genetics ; Mitochondrial Encephalomyopathies/therapy ; Mutation ; Optic Atrophy, Hereditary, Leber/genetics ; Optic Atrophy, Hereditary, Leber/therapy
    Chemical Substances DNA, Mitochondrial
    Language German
    Publishing date 2019-03-13
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 123291-5
    ISSN 1433-0407 ; 0028-2804
    ISSN (online) 1433-0407
    ISSN 0028-2804
    DOI 10.1007/s00115-018-0666-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.100: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 446: Show issues

    Order via subito

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  9. Book: mitoNET-Teilprojekt C1: mitoREGISTER - Horizontales klinisches Netzwerk und Register für das Deutsche Netzwerk für mitochondriale Erkrankungen

    Klopstock, Thomas

    Schlussbericht ; Förderung: 01.02.2009 bis 31.01.2012

    2012  

    Title variant Subproject C1: mitoREGISTER - Horizontal clinical network and register for the German network for mitochondrial diseases
    Institution Friedrich-Baur-Institut
    Author's details Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München. [Autoren]: Thomas Klopstock
    Language German ; English
    Size 6, [2] Bl., graph. Darst.
    Publishing place München
    Document type Book
    Note Zsfassung in dt. u. engl. Sprache ; Förderkennzeichen BMBF 01GM0862. - Verbund-Nr. 01069096. - Engl. Berichtsbl. u.d.T.: Subproject C1: mitoREGISTER - Horizontal clinical network and register for the German network for mitochondrial diseases ; 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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  10. Book ; Online: mitoNET-Teilprojekt C1: mitoREGISTER - Horizontales klinisches Netzwerk und Register für das Deutsche Netzwerk für mitochondriale Erkrankungen

    Klopstock, Thomas

    Schlussbericht ; Förderung: 01.02.2009 bis 31.01.2012

    2012  

    Title variant Subproject C1: mitoREGISTER - Horizontal clinical network and register for the German network for mitochondrial diseases
    Institution Friedrich-Baur-Institut
    Author's details Friedrich-Baur-Institut an der Neurologischen Klinik, Klinikum der Universität München. [Autoren]: Thomas Klopstock
    Language German ; English
    Size Online-Ressource (PDF-Datei: 8 S., 639 KB), graph. Darst.
    Publisher Technische Informationsbibliothek u. Universitätsbibliothek
    Publishing place Hannover ; München
    Document type Book ; Online
    Note Zsfassung in dt. u. engl. Sprache ; Förderkennzeichen BMBF 01GM0862. - Verbund-Nr. 01069096. - Engl. Berichtsbl. u.d.T.: Subproject C1: mitoREGISTER - Horizontal clinical network and register for the German network for mitochondrial diseases ; 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

    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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