C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET

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Standard

C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype : A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET. / Filikci, Zuhal; Gustafsson, Moa Anna Kristina; Henriksen, Otto Mølby; Marner, Lisbeth; Høgh, Peter.

I: Clinical Case Reports, Bind 8, Nr. 12, 2020, s. 3416-3420.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Filikci, Z, Gustafsson, MAK, Henriksen, OM, Marner, L & Høgh, P 2020, 'C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET', Clinical Case Reports, bind 8, nr. 12, s. 3416-3420. https://doi.org/10.1002/ccr3.3417

APA

Filikci, Z., Gustafsson, M. A. K., Henriksen, O. M., Marner, L., & Høgh, P. (2020). C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET. Clinical Case Reports, 8(12), 3416-3420. https://doi.org/10.1002/ccr3.3417

Vancouver

Filikci Z, Gustafsson MAK, Henriksen OM, Marner L, Høgh P. C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET. Clinical Case Reports. 2020;8(12):3416-3420. https://doi.org/10.1002/ccr3.3417

Author

Filikci, Zuhal ; Gustafsson, Moa Anna Kristina ; Henriksen, Otto Mølby ; Marner, Lisbeth ; Høgh, Peter. / C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype : A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET. I: Clinical Case Reports. 2020 ; Bind 8, Nr. 12. s. 3416-3420.

Bibtex

@article{da26506558044dd9b1095e72c702c2d3,
title = "C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET",
abstract = "A thorough family history and relevant investigation program are essential to settle accurate diagnosis when clinical presentation is atypical or with a mixed picture.",
keywords = "Alzheimer's disease, C9Orf72 gene mutation, frontotemporal dementia, genetic testing",
author = "Zuhal Filikci and Gustafsson, {Moa Anna Kristina} and Henriksen, {Otto M{\o}lby} and Lisbeth Marner and Peter H{\o}gh",
year = "2020",
doi = "10.1002/ccr3.3417",
language = "English",
volume = "8",
pages = "3416--3420",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "JohnWiley & Sons Ltd",
number = "12",

}

RIS

TY - JOUR

T1 - C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype

T2 - A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET

AU - Filikci, Zuhal

AU - Gustafsson, Moa Anna Kristina

AU - Henriksen, Otto Mølby

AU - Marner, Lisbeth

AU - Høgh, Peter

PY - 2020

Y1 - 2020

N2 - A thorough family history and relevant investigation program are essential to settle accurate diagnosis when clinical presentation is atypical or with a mixed picture.

AB - A thorough family history and relevant investigation program are essential to settle accurate diagnosis when clinical presentation is atypical or with a mixed picture.

KW - Alzheimer's disease

KW - C9Orf72 gene mutation

KW - frontotemporal dementia

KW - genetic testing

U2 - 10.1002/ccr3.3417

DO - 10.1002/ccr3.3417

M3 - Journal article

C2 - 33363944

AN - SCOPUS:85093961365

VL - 8

SP - 3416

EP - 3420

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 12

ER -

ID: 251943483