LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 218

Search options

  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

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    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.

  2. Article: Complex neurological and multisystem presentations in mitochondrial disease.

    Mancuso, Michelangelo

    Handbook of clinical neurology

    2023  Volume 194, Page(s) 117–124

    Abstract: Mitochondrial diseases typically involve organs highly dependent on aerobic metabolism and are often progressive with high morbidity and mortality. In the previous chapters of this book, classical mitochondrial phenotypes and syndromes are extensively ... ...

    Abstract Mitochondrial diseases typically involve organs highly dependent on aerobic metabolism and are often progressive with high morbidity and mortality. In the previous chapters of this book, classical mitochondrial phenotypes and syndromes are extensively described. However, these well-known clinical pictures are more the exception rather than the rule in mitochondrial medicine. In fact, more complex, unspecified, incomplete, and/or overlap clinical entities may be even more frequent, with multisystem appearance or progression. In this chapter, we describe some complex neurological presentations, as well as the multisystem manifestations of mitochondrial diseases, ranging from the brain to the other organs.
    MeSH term(s) Humans ; DNA, Mitochondrial/genetics ; Mitochondrial Diseases/genetics ; Brain ; Mitochondria/genetics ; Syndrome ; Mutation
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2023-02-21
    Publishing country Netherlands
    Document type Review ; Journal Article
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-12-821751-1.00003-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Unravelling the mysteries: a reflection on rare neurological diseases.

    Filosto, Massimiliano / Mancuso, Michelangelo / Federico, Antonio / Padovani, Alessandro

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2024  Volume 45, Issue 3, Page(s) 833–835

    MeSH term(s) Humans ; Nervous System Diseases/diagnosis ; Nervous System Diseases/therapy ; Rare Diseases
    Language English
    Publishing date 2024-02-01
    Publishing country Italy
    Document type Editorial
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-024-07374-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1877: 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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Response to Carvalho et al.: Diagnosis of monogenic small-vessel disease - "real- world" application of the consensus recommendation of the European Academy of Neurology.

    Mancuso, Michelangelo / Markus, Hugh S

    European journal of neurology

    2021  Volume 28, Issue 6, Page(s) e37

    MeSH term(s) Academies and Institutes ; Consensus ; Humans ; Neurology ; Vascular Diseases
    Language English
    Publishing date 2021-03-22
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.14817
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4738: 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 592: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Biomolecules of Muscle Fatigue in Metabolic Myopathies.

    Schirinzi, Erika / Ricci, Giulia / Torri, Francesca / Mancuso, Michelangelo / Siciliano, Gabriele

    Biomolecules

    2023  Volume 14, Issue 1

    Abstract: Metabolic myopathies are a group of genetic disorders that affect the normal functioning of muscles due to abnormalities in metabolic pathways. These conditions result in impaired energy production and utilization within muscle cells, leading to ... ...

    Abstract Metabolic myopathies are a group of genetic disorders that affect the normal functioning of muscles due to abnormalities in metabolic pathways. These conditions result in impaired energy production and utilization within muscle cells, leading to limitations in muscle function with concomitant occurrence of related signs and symptoms, among which fatigue is one of the most frequently reported. Understanding the underlying molecular mechanisms of muscle fatigue in these conditions is challenging for the development of an effective diagnostic and prognostic approach to test targeted therapeutic interventions. This paper outlines the key biomolecules involved in muscle fatigue in metabolic myopathies, including energy substrates, enzymes, ion channels, and signaling molecules. Potential future research directions in this field are also discussed.
    MeSH term(s) Humans ; Muscle Fatigue ; Muscular Diseases ; Metabolism, Inborn Errors ; Muscles ; Muscle Cells
    Language English
    Publishing date 2023-12-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2701262-1
    ISSN 2218-273X ; 2218-273X
    ISSN (online) 2218-273X
    ISSN 2218-273X
    DOI 10.3390/biom14010050
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Editorial: Neurology and Genetics: How Molecular Biology is Changing the Neurological Thoughts?

    Mancuso, Michelangelo

    Current molecular medicine

    2014  Volume 14, Issue 8, Page(s) 933

    Language English
    Publishing date 2014
    Publishing country Netherlands
    Document type Editorial
    ZDB-ID 2064873-X
    ISSN 1875-5666 ; 1566-5240
    ISSN (online) 1875-5666
    ISSN 1566-5240
    DOI 10.2174/156652401408141013152207
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5580: 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)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: Mitochondrial Epilepsy, a Challenge for Neurologists.

    Lopriore, Piervito / Gomes, Fábio / Montano, Vincenzo / Siciliano, Gabriele / Mancuso, Michelangelo

    International journal of molecular sciences

    2022  Volume 23, Issue 21

    Abstract: Primary mitochondrial diseases are relatively common inborn errors of energy metabolism, with a combined prevalence of 1 in 4300. These disorders typically affect tissues with high energy requirements, including the brain. Epilepsy affects >1% of the ... ...

    Abstract Primary mitochondrial diseases are relatively common inborn errors of energy metabolism, with a combined prevalence of 1 in 4300. These disorders typically affect tissues with high energy requirements, including the brain. Epilepsy affects >1% of the worldwide population, making it one of the most common neurological illnesses; it may be the presenting feature of a mitochondrial disease, but is often part of a multisystem clinical presentation. The major genetic causes of mitochondrial epilepsy are mutations in mitochondrial DNA and in the nuclear-encoded gene POLG. Treatment of mitochondrial epilepsy may be challenging, often representing a poor prognostic feature. This narrative review will cover the most recent advances in the field of mitochondrial epilepsy, from pathophysiology and genetic etiologies to phenotype and treatment options.
    MeSH term(s) Humans ; Neurologists ; Mitochondrial Diseases/genetics ; Mitochondrial Diseases/therapy ; Mitochondrial Diseases/complications ; DNA, Mitochondrial/genetics ; Epilepsy/etiology ; Epilepsy/genetics ; Mitochondria/genetics ; Mutation
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2022-10-30
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms232113216
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Article: Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.

    Lopriore, Piervito / Ricciarini, Valentina / Siciliano, Gabriele / Mancuso, Michelangelo / Montano, Vincenzo

    Neurology international

    2022  Volume 14, Issue 2, Page(s) 337–356

    Abstract: Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or ... ...

    Abstract Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation.
    Language English
    Publishing date 2022-04-02
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2514727-4
    ISSN 2035-8377 ; 2035-8385
    ISSN (online) 2035-8377
    ISSN 2035-8385
    DOI 10.3390/neurolint14020028
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Pathophysiology and Management of Fatigue in Neuromuscular Diseases.

    Torri, Francesca / Lopriore, Piervito / Montano, Vincenzo / Siciliano, Gabriele / Mancuso, Michelangelo / Ricci, Giulia

    International journal of molecular sciences

    2023  Volume 24, Issue 5

    Abstract: Fatigue is a major determinant of quality of life and motor function in patients affected by several neuromuscular diseases, each of them characterized by a peculiar physiopathology and the involvement of numerous interplaying factors. This narrative ... ...

    Abstract Fatigue is a major determinant of quality of life and motor function in patients affected by several neuromuscular diseases, each of them characterized by a peculiar physiopathology and the involvement of numerous interplaying factors. This narrative review aims to provide an overview on the pathophysiology of fatigue at a biochemical and molecular level with regard to muscular dystrophies, metabolic myopathies, and primary mitochondrial disorders with a focus on mitochondrial myopathies and spinal muscular atrophy, which, although fulfilling the definition of rare diseases, as a group represent a representative ensemble of neuromuscular disorders that the neurologist may encounter in clinical practice. The current use of clinical and instrumental tools for fatigue assessment, and their significance, is discussed. A summary of therapeutic approaches to address fatigue, encompassing pharmacological treatment and physical exercise, is also overviewed.
    MeSH term(s) Humans ; Quality of Life ; Neuromuscular Diseases ; Muscular Dystrophies ; Muscular Diseases ; Fatigue
    Language English
    Publishing date 2023-03-05
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24055005
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Key priorities in rare neurological diseases: A statement from the Coordinating Panel on Rare Neurological Diseases of the European Academy of Neurology.

    Mancuso, Michelangelo / Graessner, Holm / de Visser, Marianne / Arsovska, Anita / Bhatia, Kailash

    European journal of neurology

    2023  Volume 30, Issue 6, Page(s) 1553–1554

    MeSH term(s) Humans ; Nervous System Diseases/epidemiology ; Nervous System Diseases/therapy ; Neurology ; Academies and Institutes
    Language English
    Publishing date 2023-03-12
    Publishing country England
    Document type Editorial
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.15752
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4738: 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 592: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top