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Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis

Acta neuropathologica communications, 2020-05, Vol.8 (1), p.63-63, Article 63

2020

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International view on genetic frontotemporal dementia

Lancet neurology, 2020-02, Vol.19 (2), p.106-108

2020

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

Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2021, Vol.13 (1), p.e12155-n/a

2021

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Novel Alzheimer’s disease risk genes: exhaustive investigation is paramount

Acta neuropathologica, 2019-08, Vol.138 (2), p.171-172

2019

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GFRA2 in GRN-related frontotemporal lobar degeneration

Lancet neurology, 2018-06, Vol.17 (6), p.488-489

2018

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The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

Frontiers in neuroscience, 2019-08, Vol.13, p.757-757

2019

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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

Proceedings of the National Academy of Sciences - PNAS, 2024-09, Vol.121 (37)

2024

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Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects

Journal of Alzheimer's disease, 2019-01, Vol.68 (3), p.1151-1159

2019

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Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

Alzheimer's research & therapy, 2018-03, Vol.10 (1), p.31-31, Article 31

2018

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Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

Frontiers in neurology, 2020-11, Vol.11, p.596108-596108

2020

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Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

Acta neuropathologica communications, 2021-02, Vol.9 (1), p.25-15, Article 25

2021

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

Alzheimer's research & therapy, 2020-09, Vol.12 (1), p.1-14, Article 108

2020

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Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Biomedicines, 2021-12, Vol.10 (1), p.20

2021

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Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

Alzheimer's & dementia : translational research & clinical interventions, 2022, Vol.8 (1), p.e12227-n/a

2022

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Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75 year old female

Stem cell research, 2018-01, Vol.26, p.76-79

2018

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ALS Genes in the Genomic Era and their Implications for FTD

Trends in genetics, 2018-06, Vol.34 (6), p.404-423

2018

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Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Stem cell research, 2018-07, Vol.30, p.141-144

2018

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Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Stem cell research, 2018-05, Vol.29, p.60-63

2018

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Proteasome degrades soluble expanded polyglutamine completely and efficiently

Neurobiology of disease, 2004-06, Vol.16 (1), p.202-211

2004

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Studying TLR9 loss‐of‐function in iPSC of patients with deleterious mutation

Alzheimer's & dementia, 2023-12, Vol.19 (S24), p.n/a

2023

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Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and 18F-FDG-PET imaging

NeuroImage clinical, 2019-01, Vol.22, p.101771-101771, Article 101771

2019

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SSHSuite: an integrated software package for analysis of large-scale suppression subtractive hybridization data

BioTechniques, 2004-06, Vol.36 (6), p.1043-1045

2004

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Method to Introduce Stable, Expanded, Polyglutamine-Encoding CAG/CAA Trinucleotide Repeats into CAG Repeat-Containing Genes

BioTechniques, 2001-08, Vol.31 (2), p.250-254

2001

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Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis

International view on genetic frontotemporal dementia

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

Novel Alzheimer’s disease risk genes: exhaustive investigation is paramount

GFRA2 in GRN-related frontotemporal lobar degeneration

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer’s disease

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

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects

Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration

Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease

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

Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer's Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor

Lack of association between bridging integrator 1 (BIN1) rs744373 polymorphism and tau‐PET load in cognitively intact older adults

Lymphoblast-derived integration-free ISRM-CON9 iPS cell line from a 75 year old female

ALS Genes in the Genomic Era and their Implications for FTD

Lymphoblast-derived integration-free iPSC line AD-TREM2-3 from a 74 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Lymphoblast-derived integration-free iPSC line AD-TREM2-1 from a 67 year-old Alzheimer's disease patient expressing the TREM2 p.R47H variant

Proteasome degrades soluble expanded polyglutamine completely and efficiently

Studying TLR9 loss‐of‐function in iPSC of patients with deleterious mutation

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and 18F-FDG-PET imaging

SSHSuite: an integrated software package for analysis of large-scale suppression subtractive hybridization data

sTREM 2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early‐stage Alzheimer's disease and associate with neuronal injury markers

Method to Introduce Stable, Expanded, Polyglutamine-Encoding CAG/CAA Trinucleotide Repeats into CAG Repeat-Containing Genes

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