M. Mol

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C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Demis A. Kia, O. Andreassen, B. Miller, 2020, Neurology.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Kevin F. Bieniek, B. Miller, C. Geula, 2019, Acta Neuropathologica.

Cognitive profiles discriminate between genetic variants of behavioral frontotemporal dementia

Y. Pijnenburg, J. V. van Swieten, M. Mol, 2020, Journal of Neurology.

Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

Y. Pijnenburg, M. Hulsman, P. Scheltens, 2022, Alzheimer's research & therapy.

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia

A. Smit, P. Heutink, J. V. van Swieten, 2022, Acta Neuropathologica Communications.

Somatic TARDBP variants as a cause of semantic dementia

A. Uitterlinden, J. V. van Meurs, A. Smit, 2020, Brain : a journal of neurology.

Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?

J. V. van Swieten, J. V. van Rooij, M. Mol, 2021, International journal of molecular sciences.

Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients

J. V. van Swieten, A. Verkerk, J. V. van Rooij, 2020, Neurobiology of Aging.

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP

Y. Pijnenburg, M. V. van Es, J. Veldink, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

Y. Pijnenburg, S. Mead, J. Veldink, 2022, Acta Neuropathologica Communications.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Nature Genetics.

Global Prevalence of Young-Onset Dementia: A Systematic Review and Meta-analysis.

W. M. van der Flier, S. Köhler, M. D. de Vugt, 2021, JAMA neurology.

Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology

A. Smit, J. V. van Swieten, J. V. van Rooij, 2022, Acta Neuropathologica Communications.

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

W. M. van der Flier, D. Rujescu, I. Giegling, 2022, Acta Neuropathologica.

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2022, Nature Genetics.

Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions

W. M. van der Flier, A. Uitterlinden, P. Scheltens, 2021, Translational Psychiatry.

New insights on the genetic etiology of Alzheimer’s and related dementia

Nick C Fox, Catherine A. Macleod, W. M. van der Flier, 2020 .

Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease

W. M. van der Flier, A. Uitterlinden, R. Redon, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

N. Galjart, J. Landers, A. Rozemuller, 2021, Neurology: Genetics.

Exome sequencing identifies rare damaging variants in the ATP8B4 and ABCA1 genes as novel risk factors for Alzheimer’s Disease

Nick C Fox, Davide, A. Uitterlinden, 2020 .

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

W. D. den Dunnen, C. Cupidi, J. V. van Swieten, 2020, Neurology: Genetics.

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia

A. Smit, P. Heutink, J. V. van Swieten, 2022, Acta neuropathologica communications.

Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

Y. Pijnenburg, M. Hulsman, P. Scheltens, 2022, Alzheimer's research & therapy.

The reporting of neuropsychiatric symptoms in electronic health records of individuals with Alzheimer’s disease: a natural language processing study

W. M. van der Flier, Y. Pijnenburg, J. Kors, 2023, Alzheimer's Research & Therapy.

Exome sequencing identifies novel AD-associated genes.

Nick C Fox, R. Redon, D. Grozeva, 2020, medRxiv.

Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration

D. Irwin, J. V. van Swieten, A. Rozemuller, 2023, Acta Neuropathologica Communications.

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

C. Geula, M. Mesulam, J. Grafman, 2019, Acta Neuropathologica.

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Nick C Fox, Pavel P. Kuksa, W. M. van der Flier, 2022, Nature Genetics.

Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the RIβ-L50R variant is expressed

M. Mol, Ronit Ilouz, Daniela Bertinetti, 2024, bioRxiv.

Novel TUBA4A Variant Associated With Familial Frontotemporal Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia Dementia us how access to this document benefits you.

N. Galjart, J. Landers, A. Rozemuller, 2021 .

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

W. M. van der Flier, D. Grozeva, O. Martinaud, 2022, Genome Medicine.