Rita Cacace

发表

Molecular genetics of early-onset Alzheimer's disease revisited

C. Broeckhoven, K. Sleegers, Rita Cacace, 2016, Alzheimer's & Dementia.

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2019, Acta Neuropathologica.

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

K. Sleegers, C. van Broeckhoven, S. Engelborghs, 2018, Acta Neuropathologica.

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

K. Sleegers, C. van Broeckhoven, Rita Cacace, 2019, Genome Biology.

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer’s disease

C. van Broeckhoven, Rita Cacace, Liene Bossaerts, 2022, Molecular Neurodegeneration.

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

K. Sleegers, C. van Broeckhoven, Rita Cacace, 2018, bioRxiv.

Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population

C. van Broeckhoven, Rita Cacace, 2021, Acta Neuropathologica.

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

C. van Broeckhoven, F. Perrone, J. van der Zee, 2021, Genome medicine.

Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

B. Bergmans, K. Sleegers, C. van Broeckhoven, 2020, Alzheimer's Research & Therapy.

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

C. van Broeckhoven, Rita Cacace, Julie Hoogmartens, 2021, Alzheimer's & dementia.

Genetic variants in progranulin upstream open reading frames increase downstream protein expression

C. van Broeckhoven, J. van der Zee, Rita Cacace, 2021, Neurobiology of Aging.

Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion

B. Asselbergh, C. van Broeckhoven, Rita Cacace, 2022, Acta Neuropathologica Communications.

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

P. Deyn, C. Broeckhoven, K. Sleegers, 2013, Neurobiology of Aging.

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Patrick Santens, Mathieu Vandenbulcke, Adrian Ivanoiu, 2015, Acta neuropathologica communications.

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

P. Deyn, C. Broeckhoven, K. Sleegers, 2013, Neurobiology of Aging.

Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis

P. Deyn, C. Broeckhoven, S. Engelborghs, 2018, Neurobiology of Aging.

Investigation of the role of matrix metalloproteinases in the genetic etiology of Alzheimer's disease

C. van Broeckhoven, S. Engelborghs, J. van der Zee, 2021, Neurobiology of Aging.

Rare Variants in PLD3 Do Not Affect Risk for Early‐Onset Alzheimer Disease in a European Consortium Cohort

M. Tsolaki, K. Sleegers, C. van Broeckhoven, 2015, Human mutation.

Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer’s disease

P. Deyn, B. Bergmans, C. Broeckhoven, 2020, Neurobiology of Aging.

Mutated Toll-like receptor 9 increases Alzheimer’s disease risk by compromising innate immunity protection

C. van Broeckhoven, S. Engelborghs, R. Vandenberghe, 2023, Molecular psychiatry.

Neurobiology of Aging

C. Broeckhoven, Rita Cacace, J. Zee, 2022 .