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  1. Book ; Online ; E-Book: Mitochondrial diseases

    Horvath, Rita / Hirano, Michio / Chinnery, Patrick F.

    (Handbook of clinical neurology ; 194)

    2023  

    Author's details Volume editors Rita Horvath, Michio Hirano, and Patrick F. Chinnery
    Series title Handbook of clinical neurology ; 194
    Aphasia
    Collection Aphasia
    Language English
    Size 1 Online-Ressource (xviii, 283 Seiten), Illustrationen
    Publisher Elsevier
    Publishing place Amsterdam
    Publishing country Netherlands
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT021733266
    ISBN 9780128217610 ; 9780128217511 ; 0128217618 ; 0128217510
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  2. Article: Preface.

    Horvath, Rita / Hirano, Michio / Chinnery, Patrick F

    Handbook of clinical neurology

    2023  Volume 194, Page(s) xi

    Language English
    Publishing date 2023-02-22
    Publishing country Netherlands
    Document type Editorial
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-821751-1.00017-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Progressive external ophthalmoplegia.

    Hirano, Michio / Pitceathly, Robert D S

    Handbook of clinical neurology

    2023  Volume 194, Page(s) 9–21

    Abstract: Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of ...

    Abstract Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO). Intriguingly, many of those nuclear DNA pathogenic variants impair maintenance of the mitochondrial genome causing downstream mtDNA multiple deletions and depletion. In addition, numerous genetic causes of nonmitochondrial PEO have been identified.
    MeSH term(s) Humans ; Ophthalmoplegia, Chronic Progressive External/complications ; Ophthalmoplegia, Chronic Progressive External/genetics ; Ophthalmoplegia, Chronic Progressive External/pathology ; DNA, Mitochondrial/genetics ; Ophthalmoplegia/genetics ; Ophthalmoplegia/pathology ; Muscle, Skeletal/pathology ; Syndrome
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2023-02-22
    Publishing country Netherlands
    Document type Review ; Journal Article
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-821751-1.00018-X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Multivisceral transplantation for the treatment of mitochondrial neurogastrointestinal encephalomyopathy.

    Rust, Dylan / Martinez, Mercedes / Lagana, Stephen / Hirano, Michio / Kato, Tomoaki / Weiner, Joshua

    Clinical transplantation

    2024  Volume 38, Issue 1, Page(s) e15230

    MeSH term(s) Humans ; Mitochondrial Encephalomyopathies/surgery ; Organ Transplantation
    Language English
    Publishing date 2024-01-30
    Publishing country Denmark
    Document type Case Reports ; Letter
    ZDB-ID 639001-8
    ISSN 1399-0012 ; 0902-0063
    ISSN (online) 1399-0012
    ISSN 0902-0063
    DOI 10.1111/ctr.15230
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    Zs.A 2204: Show issues Location:
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  5. Article ; Online: Hypermetabolism and energetic constraints in mitochondrial disorders.

    Sercel, Alexander J / Sturm, Gabriel / Gallagher, Dympna / St-Onge, Marie-Pierre / Kempes, Christopher P / Pontzer, Herman / Hirano, Michio / Picard, Martin

    Nature metabolism

    2024  Volume 6, Issue 2, Page(s) 192–195

    MeSH term(s) Humans ; Mitochondrial Diseases/genetics ; Mitochondria
    Language English
    Publishing date 2024-02-09
    Publishing country Germany
    Document type Journal Article
    ISSN 2522-5812
    ISSN (online) 2522-5812
    DOI 10.1038/s42255-023-00968-8
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  6. Article: Perceived association of mood and symptom severity in adults with mitochondrial diseases.

    Kelly, Catherine / Junker, Alex / Englestad, Kris / Hirano, Michio / Trumpff, Caroline / Picard, Martin

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Individuals with genetic mitochondrial diseases suffer from multisystemic symptoms that vary in severity from day-to-day and week-to-week, but the underlying causes of symptomatic fluctuations are not understood. Based upon observations that: i) patients ...

    Abstract Individuals with genetic mitochondrial diseases suffer from multisystemic symptoms that vary in severity from day-to-day and week-to-week, but the underlying causes of symptomatic fluctuations are not understood. Based upon observations that: i) patients and their families frequently report that stressful life events either trigger exacerbations of existing symptoms or the onset of new symptoms, ii) psychological states and stress hormones influence mitochondrial energy production capacity, and iii) epidemiological reports document a robust connection between traumatic/stressful life events and various neurologic disorders, we hypothesized that mitochondrial disease symptom severity may vary according to participant's mood. To investigate this we administered the Stress, Health and Emotion Survey (SHES) in 70 adults (majority white (84%) cisgender women (83%), ages 18-74) with self-reported mitochondrial diseases (MELAS, 18%; CPEO, 17%; Complex I deficiency, 13%). Participants rated the severity of each of their symptom(s) over the past year on either good or bad days. On days marked by more stress, sadness and other negative emotions, some but not all symptoms were reported to be worse, including fatigue, exercise intolerance, brain fog, and fine motor coordination. By contrast, on days marked by happiness and calmness, participants reported these and other symptoms to be better, or less severe. Other symptoms including diminished sweating, hearing problems, and dystonia were in general unrelated to mood. Thus, some individuals living with mitochondrial diseases, at times perceive a connection between their mood and symptom severity. These preliminary associative results constitute an initial step towards developing more comprehensive models of the factors that influence the clinical course of mitochondrial diseases.
    Language English
    Publishing date 2024-02-04
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.02.02.24302076
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Radical generation and bactericidal activity of nanobubbles produced by ultrasonic irradiation of carbonated water.

    Mokudai, Takayuki / Kawada, Michi / Tadaki, Daisuke / Hirano-Iwata, Ayumi / Kanetaka, Hiroyasu / Fujimori, Hiroshi / Takemoto, Emiko / Niwano, Michio

    Ultrasonics sonochemistry

    2024  Volume 103, Page(s) 106809

    Abstract: Our previous study showed that nanobubbles (NBs) encapsulating ... ...

    Abstract Our previous study showed that nanobubbles (NBs) encapsulating CO
    MeSH term(s) Reactive Oxygen Species ; Ultrasonics ; Carbonated Water ; Carbon Dioxide ; Hydroxyl Radical/chemistry
    Chemical Substances Reactive Oxygen Species ; Carbonated Water ; Carbon Dioxide (142M471B3J) ; Hydroxyl Radical (3352-57-6)
    Language English
    Publishing date 2024-02-14
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1208333-1
    ISSN 1873-2828 ; 1350-4177
    ISSN (online) 1873-2828
    ISSN 1350-4177
    DOI 10.1016/j.ultsonch.2024.106809
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    Zs.A 4441: Show issues Location:
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  8. Article ; Online: Editing the Mitochondrial Genome.

    Falkenberg, Maria / Hirano, Michio

    The New England journal of medicine

    2020  Volume 383, Issue 15, Page(s) 1489–1491

    MeSH term(s) Clustered Regularly Interspaced Short Palindromic Repeats ; Cytidine Deaminase ; Genome, Mitochondrial ; Mitochondria
    Chemical Substances Cytidine Deaminase (EC 3.5.4.5)
    Language English
    Publishing date 2020-10-07
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMcibr2025332
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  9. Article ; Online: 232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 - 18 June 2017, Heemskerk, The Netherlands.

    López-Gómez, Carlos / Cámara, Yolanda / Hirano, Michio / Martí, Ramon

    Neuromuscular disorders : NMD

    2022  Volume 32, Issue 7, Page(s) 609–620

    MeSH term(s) DNA, Mitochondrial/genetics ; Humans ; Mitochondrial Diseases/diagnosis ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/therapy ; Netherlands
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2022-05-14
    Publishing country England
    Document type Clinical Conference
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2022.05.008
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    Zs.A 3258: Show issues Location:
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  10. Article ; Online: Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass.

    Hirano, Michio

    Brain : a journal of neurology

    2014  Volume 137, Issue Pt 2, Page(s) 308–309

    MeSH term(s) DNA, Mitochondrial/genetics ; Female ; Humans ; Male ; Mitochondrial Turnover/genetics ; Optic Atrophy, Hereditary, Leber/diagnosis ; Optic Atrophy, Hereditary, Leber/genetics ; Penetrance
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2014-02-05
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awu005
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