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  1. Article: Mitochondrial Medicine in the COVID-19 Era.

    Orsucci, Daniele

    Journal of clinical medicine

    2021  Volume 10, Issue 22

    Abstract: Mitochondrial disorders are a remarkably complex group of diseases caused by impairment of the mitochondrial respiratory chain (or electron transport chain) [ ... ]. ...

    Abstract Mitochondrial disorders are a remarkably complex group of diseases caused by impairment of the mitochondrial respiratory chain (or electron transport chain) [...].
    Language English
    Publishing date 2021-11-10
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10225235
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: How Next-Generation Sequencing Is Changing Clinical Neurogenetics.

    Orsucci, Daniele

    Neurology international

    2021  Volume 13, Issue 4, Page(s) 569

    Abstract: Until recently, most general neurologists were not interested in neurogenetics [ ... ]. ...

    Abstract Until recently, most general neurologists were not interested in neurogenetics [...].
    Language English
    Publishing date 2021-11-04
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2514727-4
    ISSN 2035-8377 ; 2035-8385
    ISSN (online) 2035-8377
    ISSN 2035-8385
    DOI 10.3390/neurolint13040056
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Mitochondrial Medicine in the COVID-19 Era

    Daniele Orsucci

    Journal of Clinical Medicine, Vol 10, Iss 5235, p

    2021  Volume 5235

    Abstract: Mitochondrial disorders are a remarkably complex group of diseases caused by impairment of the mitochondrial respiratory chain (or electron transport chain) [.] ...

    Abstract Mitochondrial disorders are a remarkably complex group of diseases caused by impairment of the mitochondrial respiratory chain (or electron transport chain) [.]
    Keywords CPEO ; Leber ; Leigh syndrome ; MELAS ; MERRF ; mitochondrial myopathy ; Medicine ; R
    Language English
    Publishing date 2021-11-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  4. Article ; Online: How Next-Generation Sequencing Is Changing Clinical Neurogenetics

    Daniele Orsucci

    Neurology International, Vol 13, Iss 56, Pp 569-

    2021  Volume 569

    Abstract: Until recently, most general neurologists were not interested in neurogenetics [.] ...

    Abstract Until recently, most general neurologists were not interested in neurogenetics [.]
    Keywords n/a ; Medicine ; R ; Internal medicine ; RC31-1245 ; Neurosciences. Biological psychiatry. Neuropsychiatry ; RC321-571
    Language English
    Publishing date 2021-11-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  5. Article: Response to 'Presentation and pathophysiology of neuro-COVID'.

    Orsucci, Daniele / Vista, Marco

    Drugs in context

    2021  Volume 10

    Abstract: Letter to the Editor in response to Finsterer J, Scorza FA, Scorza CA. Presentation and pathophysiology of neuro-COVID. ...

    Abstract Letter to the Editor in response to Finsterer J, Scorza FA, Scorza CA. Presentation and pathophysiology of neuro-COVID.
    Language English
    Publishing date 2021-08-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 2719560-0
    ISSN 1740-4398 ; 1745-1981
    ISSN (online) 1740-4398
    ISSN 1745-1981
    DOI 10.7573/dic.2021-7-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Primary Coenzyme Q10 Deficiency-Related Ataxias.

    Lopriore, Piervito / Vista, Marco / Tessa, Alessandra / Giuntini, Martina / Caldarazzo Ienco, Elena / Mancuso, Michelangelo / Siciliano, Gabriele / Santorelli, Filippo Maria / Orsucci, Daniele

    Journal of clinical medicine

    2024  Volume 13, Issue 8

    Abstract: Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is ... ...

    Abstract Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencies (PCoQD)s. PCoQD is a potentially treatable condition; therefore, a correct and timely diagnosis is essential. After a brief presentation of the illustrative case of an Italian woman with this condition (due to a novel homozygous nonsense mutation in
    Language English
    Publishing date 2024-04-19
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm13082391
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Type-1 neurofibromatosis mimicking multiple mononeuropathy: the help of nerve ultrasound.

    Orsucci, Daniele / Moscato, Gianluca / Ricci, Vincenzo / Galletti, Stefano / Vista, Marco

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

    2021  Volume 42, Issue 7, Page(s) 3007–3009

    MeSH term(s) Humans ; Mononeuropathies ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/diagnostic imaging ; Ultrasonography
    Language English
    Publishing date 2021-03-01
    Publishing country Italy
    Document type Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-021-05140-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    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)

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  8. Article ; Online: Mitochondrial stroke-like episodes: The search for new therapies.

    Orsucci, Daniele / Caldarazzo Ienco, Elena / Montano, Vincenzo / Siciliano, Gabriele / Mancuso, Michelangelo

    Pharmacological research

    2022  Volume 180, Page(s) 106228

    Abstract: A mitochondrial stroke-like event is an evolving subacute neurological syndrome linked to seizure activity and focal metabolic brain derangement in a genetically determined mitochondrial disorder. The acronym "MELAS" (mitochondrial encephalopathy ... ...

    Abstract A mitochondrial stroke-like event is an evolving subacute neurological syndrome linked to seizure activity and focal metabolic brain derangement in a genetically determined mitochondrial disorder. The acronym "MELAS" (mitochondrial encephalopathy associated with lactic acidosis and stroke-like lesions) identifies subjects with molecular, biochemical and/or histological evidence of mitochondrial disorder who experience stroke-like lesions. MELAS is a rare inherited mitochondrial disease linked to severe multiorgan involvement and stress-induced episodes of metabolic decompensation and lactic acidosis. Unfortunately, there are no etiopathogenetic therapies for stroke-like episodes to date, and the treatment is mainly based on anti-epileptic drugs and supportive therapies. This perspective opinion article discusses the current care standards for MELAS patients and revises current and innovative emerging therapies for mitochondrial stroke-like episodes.
    MeSH term(s) Acidosis, Lactic/complications ; DNA, Mitochondrial ; Humans ; MELAS Syndrome/complications ; MELAS Syndrome/drug therapy ; Mitochondrial Diseases ; Mutation ; Stroke/drug therapy
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2022-04-21
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1003347-6
    ISSN 1096-1186 ; 0031-6989 ; 1043-6618
    ISSN (online) 1096-1186
    ISSN 0031-6989 ; 1043-6618
    DOI 10.1016/j.phrs.2022.106228
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 721: 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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  9. Article: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.

    Orsucci, Daniele / Lorenzetti, Lucia / Baldinotti, Fulvia / Rossi, Andrea / Vitolo, Edoardo / Gheri, Fabio Luigi / Napolitano, Alessandro / Tintori, Giancarlo / Vista, Marco

    Journal of clinical medicine

    2022  Volume 11, Issue 4

    Abstract: Although larger trinucleotide expansions give rise to a neurodevelopmental disorder called fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a "premutation" (55-200 CGG repeats) ... ...

    Abstract Although larger trinucleotide expansions give rise to a neurodevelopmental disorder called fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a "premutation" (55-200 CGG repeats) in the
    Language English
    Publishing date 2022-02-15
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm11041002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Mitochondrial Syndromes Revisited.

    Orsucci, Daniele / Caldarazzo Ienco, Elena / Rossi, Andrea / Siciliano, Gabriele / Mancuso, Michelangelo

    Journal of clinical medicine

    2021  Volume 10, Issue 6

    Abstract: In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make ... ...

    Abstract In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been associated with some syndromic presentations, the genotype-phenotype relationship in mitochondrial disorders is complex (a single mutation can cause several clinical syndromes, while different genetic alterations can cause similar phenotypes). This review will revisit the most common syndromic pictures of mitochondrial disorders, from a clinical rather than a molecular perspective. We believe that the new phenotype definitions implemented by recent large multicenter studies, and revised here, may contribute to a more homogeneous patient categorization, which will be useful in future studies on natural history and clinical trials.
    Language English
    Publishing date 2021-03-17
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm10061249
    Database MEDical Literature Analysis and Retrieval System OnLINE

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