TY  - CONF
AU  - Mirza, Saira S
AU  - Pasternak, Maurice
AU  - Paterson, Andrew D
AU  - Tartaglia, Carmela
AU  - Black, Sandra E
AU  - Mitchell, Sara
AU  - Freedman, Morris
AU  - Tang-Wai, David F
AU  - Rogaeva, Ekaterina
AU  - Cash, David M
AU  - Bocchetta, Martina
AU  - van Swieten, John
AU  - Laforce, Robert
AU  - Tagliavini, Fabrizio
AU  - Borroni, Barbara
AU  - Galimberti, Daniela
AU  - Rowe, James B
AU  - Graff, Caroline
AU  - Finger, Elizabeth
AU  - Sorbi, Sandro
AU  - Mendonca, Alexandre
AU  - Butler, Christopher R
AU  - Gerhard, Alexander
AU  - Sánchez-Valle, Raquel
AU  - Moreno, Fermin
AU  - Synofzik, Matthis
AU  - Vandenberghe, Rik
AU  - Ducharme, Simon
AU  - Levin, Johannes
AU  - Otto, Markus
AU  - Santana, Isabel
AU  - Rohrer, Jonathan D
AU  - Masellis, Mario
TI  - Rare genetic variants influence regional cortical and subcortical grey matter volumes in genetic frontotemporal dementia: A GENFI Study
JO  - Alzheimer's and dementia
VL  - 21
IS  - S2
SN  - 1552-5260
M1  - DZNE-2026-00052
SP  - e106121
PY  - 2025
AB  - There is substantial heterogeneity in clinical presentation of genetic Frontotemporal Dementia (FTD), even within the same family. This suggests that additional heritability may exist and contribute to this variable presentation. We examined whether gene-based aggregate burden of genome-wide rare variants (minor allele frequency [MAF]: ≤1
T2  - Alzheimer’s Association International Conference
CY  - 27 Jul 2025 - 31 Jul 2025, Toronto (Canada)
Y2  - 27 Jul 2025 - 31 Jul 2025
M2  - Toronto, Canada
KW  - Humans
KW  - Frontotemporal Dementia: genetics
KW  - Frontotemporal Dementia: pathology
KW  - Frontotemporal Dementia: diagnostic imaging
KW  - Male
KW  - Female
KW  - Magnetic Resonance Imaging
KW  - Middle Aged
KW  - Gray Matter: pathology
KW  - Gray Matter: diagnostic imaging
KW  - tau Proteins: genetics
KW  - Mutation: genetics
KW  - C9orf72 Protein: genetics
KW  - Biomarkers
KW  - Progranulins: genetics
KW  - Brain: pathology
KW  - Brain: diagnostic imaging
KW  - Aged
KW  - Genome-Wide Association Study
KW  - Genotype
KW  - tau Proteins (NLM Chemicals)
KW  - C9orf72 Protein (NLM Chemicals)
KW  - Biomarkers (NLM Chemicals)
KW  - Progranulins (NLM Chemicals)
KW  - MAPT protein, human (NLM Chemicals)
KW  - C9orf72 protein, human (NLM Chemicals)
KW  - GRN protein, human (NLM Chemicals)
LB  - PUB:(DE-HGF)1 ; PUB:(DE-HGF)16
C6  - pmid:41505495
DO  - DOI:10.1002/alz70856_106121
UR  - https://pub.dzne.de/record/283156
ER  -