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  1. Article: C9orf72

    Ryan, Marie / Doherty, Mark A / Al Khleifat, Ahmad / Costello, Emmet / Hengeveld, Jennifer C / Heverin, Mark / Al-Chalabi, Ammar / Mclaughlin, Russell L / Hardiman, Orla

    Neurology. Genetics

    2023  Volume 10, Issue 1, Page(s) e200112

    Abstract: Background and objectives: A hexanucleotide repeat expansion in the noncoding region of the : Methods: One hundred thirty-one familial ALS pedigrees, 59 of which carried the : Results: We identified 21 kindreds where at least 1 family member with ... ...

    Abstract Background and objectives: A hexanucleotide repeat expansion in the noncoding region of the
    Methods: One hundred thirty-one familial ALS pedigrees, 59 of which carried the
    Results: We identified 21 kindreds where at least 1 family member with ALS carried the
    Discussion: Family members of kindreds associated with the
    Language English
    Publishing date 2023-12-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2818607-2
    ISSN 2376-7839
    ISSN 2376-7839
    DOI 10.1212/NXG.0000000000200112
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The selective anatomical vulnerability of ALS: 'disease-defining' and 'disease-defying' brain regions.

    Bede, Peter / Iyer, Parameswaran M / Schuster, Christina / Elamin, Marwa / Mclaughlin, Russell L / Kenna, Kevin / Hardiman, Orla

    Amyotrophic lateral sclerosis & frontotemporal degeneration

    2016  Volume 17, Issue 7-8, Page(s) 561–570

    Abstract: A large multiparametric MRI study has been undertaken to evaluate anatomical patterns of basal ganglia, white matter and cortical grey matter involvement in ALS. Unaffected brain regions are mapped in patients with significant disability. Multiple white ... ...

    Abstract A large multiparametric MRI study has been undertaken to evaluate anatomical patterns of basal ganglia, white matter and cortical grey matter involvement in ALS. Unaffected brain regions are mapped in patients with significant disability. Multiple white matter diffusivity measures, cortical grey matter density alterations, basal ganglia volumes and subcortical grey matter atrophy patterns are evaluated. Results demonstrated a strikingly selective anatomical vulnerability pattern in ALS that preferentially affects specific grey matter structures, commissural white matter tracts and basal ganglia regions, suggestive of networkwise neurodegeneration in ALS. In conclusion, ALS pathology exhibits predilection for selective and inter-connected anatomical sites that can be comprehensively characterized in vivo by multiparametric neuroimaging. The systematic characterization of unaffected brain regions in ALS has implications for the development of classifier analyses and elucidation of disease biology. The involvement and sparing of contiguous brain regions raises important pathophysiological, phylogenetic and ontogenetic questions regarding ALS pathogenesis and disease spread.
    MeSH term(s) Aged ; Amyotrophic Lateral Sclerosis/diagnostic imaging ; Amyotrophic Lateral Sclerosis/pathology ; Brain/diagnostic imaging ; Brain/pathology ; Female ; Gray Matter/diagnostic imaging ; Humans ; Image Processing, Computer-Assisted ; Magnetic Resonance Imaging ; Male ; Middle Aged ; White Matter/diagnostic imaging
    Language English
    Publishing date 2016-10
    Publishing country England
    Document type Journal Article
    ZDB-ID 2705049-X
    ISSN 2167-9223 ; 2167-8421
    ISSN (online) 2167-9223
    ISSN 2167-8421
    DOI 10.3109/21678421.2016.1173702
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5874: 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)

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  3. Article ; Online: Reconsidering the causality of TIA1 mutations in ALS.

    van der Spek, Rick A / van Rheenen, Wouter / Pulit, Sara L / Kenna, Kevin P / Ticozzi, Nicola / Kooyman, Maarten / Mclaughlin, Russell L / Moisse, Matthieu / van Eijk, Kristel R / van Vugt, Joke J F A / Iacoangeli, Alfredo / Andersen, Peter / Nazli Basak, A / Blair, Ian / de Carvalho, Mamede / Chio, Adriano / Corcia, Philippe / Couratier, Phillipe / Drory, Vivian E /
    Glass, Jonathan D / Hardiman, Orla / Mora, Jesús S / Morrison, Karen E / Mitne-Neto, Miguel / Robberecht, Wim / Shaw, Pamela J / Panadés, Monica P / van Damme, Philip / Silani, Vincenzo / Gotkine, Marc / Weber, Markus / van Es, Michael A / Landers, John E / Al-Chalabi, Ammar / van den Berg, Leonard H / Veldink, Jan H

    Amyotrophic lateral sclerosis & frontotemporal degeneration

    2017  Volume 19, Issue 1-2, Page(s) 1–3

    MeSH term(s) Amyotrophic Lateral Sclerosis/genetics ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Humans ; Mutation/genetics ; T-Cell Intracellular Antigen-1/genetics
    Chemical Substances T-Cell Intracellular Antigen-1 ; TIA1 protein, human
    Language English
    Publishing date 2017-12-13
    Publishing country England
    Document type Editorial
    ZDB-ID 2705049-X
    ISSN 2167-9223 ; 2167-8421
    ISSN (online) 2167-9223
    ISSN 2167-8421
    DOI 10.1080/21678421.2017.1413118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5874: 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)

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