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Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.

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Title: Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.
Authors: Johansson C; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden. charlotte.johansson@ki.se.; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden. charlotte.johansson@ki.se., Rodriguez-Vieitez E; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden., Bluma M; Division of Clinical Geriatrics, Department of Neurobiology, Center for Alzheimer Research, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden., Nennesmo I; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital Solna, Stockholm, Sweden., Thonberg H; Department for Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital Solna, Stockholm, Sweden., Ullgren A; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden.; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden., Jelic V; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.; Division of Clinical Geriatrics, Department of Neurobiology, Center for Alzheimer Research, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden., Zetterberg H; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK.; Hong Kong Center for Neurodegenerative Diseases, Clear Water Bay, Hong Kong SAR, China.; Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, USA., Blennow K; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Pitié-Salpêtrière Hospital, Paris Brain Institute, ICM, Sorbonne University, Paris, France.; Division of Life Sciences and Medicine, Department of Neurology, Institute on Aging and Brain Disorders, Neurodegenerative Disorder Research Center, University of Science and Technology of China and First Affiliated Hospital of USTC, Hefei, China., Nordberg A; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.; Division of Clinical Geriatrics, Department of Neurobiology, Center for Alzheimer Research, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden., Graff C; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden.; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.
Source: Alzheimer's research & therapy [Alzheimers Res Ther] 2025 Dec 01; Vol. 17 (1), pp. 254. Date of Electronic Publication: 2025 Dec 01.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101511643 Publication Model: Electronic Cited Medium: Internet ISSN: 1758-9193 (Electronic) NLM ISO Abbreviation: Alzheimers Res Ther Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Johansson+C%22">Johansson C</searchLink>; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden. charlotte.johansson@ki.se.; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden. charlotte.johansson@ki.se.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Vieitez+E%22">Rodriguez-Vieitez E</searchLink>; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden.<br /><searchLink fieldCode="AU" term="%22Bluma+M%22">Bluma M</searchLink>; Division of Clinical Geriatrics, Department of Neurobiology, Center for Alzheimer Research, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden.<br /><searchLink fieldCode="AU" term="%22Nennesmo+I%22">Nennesmo I</searchLink>; Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Department of Pathology and Cancer Diagnostics, Karolinska University Hospital Solna, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Thonberg+H%22">Thonberg H</searchLink>; Department for Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital Solna, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Ullgren+A%22">Ullgren A</searchLink>; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden.; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Jelic+V%22">Jelic V</searchLink>; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.; Division of Clinical Geriatrics, Department of Neurobiology, Center for Alzheimer Research, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden.<br /><searchLink fieldCode="AU" term="%22Zetterberg+H%22">Zetterberg H</searchLink>; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.; UK Dementia Research Institute at UCL, London, UK.; Hong Kong Center for Neurodegenerative Diseases, Clear Water Bay, Hong Kong SAR, China.; Wisconsin Alzheimer's Disease Research Center, University of Wisconsin School of Medicine and Public Health, University of Wisconsin-Madison, Madison, USA.<br /><searchLink fieldCode="AU" term="%22Blennow+K%22">Blennow K</searchLink>; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.; Pitié-Salpêtrière Hospital, Paris Brain Institute, ICM, Sorbonne University, Paris, France.; Division of Life Sciences and Medicine, Department of Neurology, Institute on Aging and Brain Disorders, Neurodegenerative Disorder Research Center, University of Science and Technology of China and First Affiliated Hospital of USTC, Hefei, China.<br /><searchLink fieldCode="AU" term="%22Nordberg+A%22">Nordberg A</searchLink>; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.; Division of Clinical Geriatrics, Department of Neurobiology, Center for Alzheimer Research, Care Sciences and Society, Karolinska Institutet, Huddinge, Sweden.<br /><searchLink fieldCode="AU" term="%22Graff+C%22">Graff C</searchLink>; Division of Neurogeriatrics, Department of Neurobiology, Center for Alzheimer Disease Research, Care Sciences and Society, Karolinska Institutet, Bioclinicum J10:20 C Graff group, Visionsgatan 4, 171 64, Solna, Sweden.; Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden.
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  Data: <searchLink fieldCode="JN" term="%22101511643%22">Alzheimer's research & therapy</searchLink> [Alzheimers Res Ther] 2025 Dec 01; Vol. 17 (1), pp. 254. <i>Date of Electronic Publication: </i>2025 Dec 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central+Ltd%22">BioMed Central Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101511643 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1758-9193 (Electronic) <i>NLM ISO Abbreviation: </i>Alzheimers Res Ther <i>Subsets: </i>MEDLINE
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              Text: 2025 Dec 01
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