Search Results - "Hjermind, Lena"

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    Hybrid 2-[18F] FDG PET/MRI in premanifest Huntington’s disease gene-expansion carriers: The significance of partial volume correction by Hellem, Marie N. N, Vinther-Jensen, Tua, Anderberg, Lasse, Budtz-Jørgensen, Esben, Hjermind, Lena E, Larsen, Vibeke Andrée, Nielsen, Jørgen E, Law, Ian

    Published in PloS one (11-06-2021)
    “…Background Huntington’s disease (HD) is an inherited, progressive neurodegenerative disease that has no cure. Striatal atrophy and hypometabolism has been…”
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    On the association between apathy and deficits of social cognition and executive functions in Huntington's disease by Hendel, Rebecca K, Hellem, Marie N N, Hjermind, Lena E, Nielsen, Jørgen E, Vogel, Asmus

    “…To investigate if executive and social cognitive dysfunction was associated with apathy in a large cohort of Huntington's disease gene expansion carriers…”
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    Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease by Essen, Marina R., Hellem, Marie N. N., Vinther‐Jensen, Tua, Ammitzbøll, Cecilie, Hansen, Rikke H., Hjermind, Lena E., Nielsen, Troels T., Nielsen, Jørgen E., Sellebjerg, Finn

    Published in Annals of neurology (01-02-2020)
    “…Objective Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT)…”
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    A germline chromothripsis event stably segregating in 11 individuals through three generations by Bertelsen, Birgitte, Nazaryan-Petersen, Lusine, Sun, Wei, Mehrjouy, Mana M., Xie, Gangcai, Chen, Wei, Hjermind, Lena E., Taschner, Peter E.M., Tümer, Zeynep

    Published in Genetics in medicine (01-05-2016)
    “…Parentally transmitted germ-line chromothripsis (G-CTH) has been identified in only a few cases. Most of these rearrangements were stably transmitted, in an…”
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    Does arterial hypertension influence the onset of Huntington's disease? by Valcárcel-Ocete, Leire, Fullaondo, Asier, Alkorta-Aranburu, Gorka, García-Barcina, María, Roos, Raymund A C, Hjermind, Lena E, Saft, Carsten, Frontali, Marina, Reilmann, Ralf, Rickards, Hugh, Zubiaga, Ana M, Aguirre, Ana

    Published in PloS one (23-05-2018)
    “…Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability…”
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    Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants by Toft, Anders, Birk, Steffen, Ballegaard, Martin, Dunø, Morten, Hjermind, Lena E., Nielsen, Jørgen E., Svenstrup, Kirsten

    Published in Journal of neurology (01-03-2019)
    “…SPG31 is a hereditary spastic paraplegia (HSP) caused by pathogenic variants in the REEP1 gene. The phenotype (SPG31) has occasionally been described with…”
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    Impairments of social cognition significantly predict the progression of functional decline in Huntington's disease: A 6-year follow-up study by Hendel, Rebecca K., Hellem, Marie N. N., Larsen, Ida U., Vinther-Jensen, Tua, Hjermind, Lena E., Nielsen, Jørgen E., Vogel, Asmus

    Published in Applied neuropsychology. Adult (02-09-2024)
    “…This study sought to investigate if there was a significant difference between the Huntington's Disease gene expansion carriers who were impaired on the…”
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  10. 10

    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington's disease by Vinther-Jensen, Tua, Larsen, Ida U, Hjermind, Lena E, Budtz-Jørgensen, Esben, Nielsen, Troels T, Nørremølle, Anne, Nielsen, Jørgen E, Vogel, Asmus

    Published in Orphanet journal of rare diseases (17-07-2014)
    “…Involuntary movements, neuropsychiatric symptoms, and cognitive impairment are all part of the symptom triad in Huntington's disease (HD). Despite the fact…”
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    Endophenotypical drift in Huntington's disease: a 5-year follow-up study by Hellem, Marie N N, Hendel, Rebecca K, Vinther-Jensen, Tua, Larsen, Ida U, Nielsen, Troels T, Hjermind, Lena E, Budtz-Jørgensen, Esben, Vogel, Asmus, Nielsen, Jørgen E

    Published in Orphanet journal of rare diseases (03-08-2021)
    “…Huntington's disease (HD) is clinically characterized by progressing motor, cognitive and psychiatric symptoms presenting as varying phenotypes within these…”
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    Intellectual Curiosity and Action Initiation are Subtypes of Apathy Affected in Huntington Disease Gene Expansion Carriers by Hendel, Rebecca K., Hellem, Marie N.N., Hjermind, Lena E., Nielsen, Jørgen E., Vogel, Asmus

    Published in Cognitive and behavioral neurology (02-12-2021)
    “…Apathy is a prevalent behavioral syndrome of Huntington disease (HD) that can result in severe loss of function for the individual with HD and substantial…”
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    Generation of a gene-corrected isogenic control cell line from an Alzheimer's disease patient iPSC line carrying a A79V mutation in PSEN1 by Pires, Carlota, Schmid, Benjamin, Petræus, Carina, Poon, Anna, Nimsanor, Natakarn, Nielsen, Troels T., Waldemar, Gunhild, Hjermind, Lena E., Nielsen, Jørgen E., Hyttel, Poul, Freude, Kristine K.

    Published in Stem cell research (01-09-2016)
    “…Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disease causing neural cell degeneration and brain atrophy and is considered to be…”
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    Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1 by Poon, Anna, Schmid, Benjamin, Pires, Carlota, Nielsen, Troels T., Hjermind, Lena E., Nielsen, Jørgen E., Holst, Bjørn, Hyttel, Poul, Freude, Kristine K.

    Published in Stem cell research (01-11-2016)
    “…Mutations in the presenilin 1 (PSEN1) gene lead to the most aggressive form of familial Alzheimer's disease (AD). Human induced pluripotent stem cells (hiPSCs)…”
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    Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease by Vinther-Jensen, Tua, Börnsen, Lars, Budtz-Jørgensen, Esben, Ammitzbøll, Cecilie, Larsen, Ida U, Hjermind, Lena E, Sellebjerg, Finn, Nielsen, Jørgen E

    “…OBJECTIVE:To investigate CSF biomarkers of neuroinflammation and neurodegeneration in Huntington disease (HD) gene-expansion carriers compared to controls and…”
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    An Exploratory Study Investigating Autonomy in Huntington's Disease Gene Expansion Carriers by Hendel, Rebecca K, Hellem, Marie N N, Hjermind, Lena E, Nielsen, Jørgen E, Vogel, Asmus

    Published in Journal of Huntington's disease (01-01-2022)
    “…Autonomy describes a psychological state of self-regulation of motivation and action, which is a central characteristic of healthy functioning. In…”
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    Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting by Nielsen, Signe Marie Borch, Vinther-Jensen, Tua, Nielsen, Jørgen E, Nørremølle, Anne, Hasholt, Lis, Hjermind, Lena E, Josefsen, Knud

    Published in Journal of the neurological sciences (15-03-2016)
    “…Abstract Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In…”
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