Found: 77
Select item for more details and to access through your institution.
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
- Published in:
- Nature, 2006, v. 442, n. 7105, p. 920, doi. 10.1038/nature05017
- By:
- Publication type:
- Article
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2228
- By:
- Publication type:
- Article
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 313, doi. 10.1093/hmg/ddm309
- By:
- Publication type:
- Article
Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1753, doi. 10.1093/hmg/ddi182
- By:
- Publication type:
- Article
No added diagnostic value of non-phosphorylated tau fraction (p-tau<sub>rel</sub>) in CSF as a biomarker for differential dementia diagnosis.
- Published in:
- Alzheimer's Research & Therapy, 2017, v. 9, p. 1, doi. 10.1186/s13195-017-0275-5
- By:
- Publication type:
- Article
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00878-y
- By:
- Publication type:
- Article
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1624, doi. 10.1093/brain/awac362
- By:
- Publication type:
- Article
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
- Published in:
- Brain: A Journal of Neurology, 2021, v. 144, n. 9, p. 2798, doi. 10.1093/brain/awab171
- By:
- Publication type:
- Article
Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13633, doi. 10.3390/ijms222413633
- By:
- Publication type:
- Article
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 6, p. 901, doi. 10.1007/s00401-019-01976-3
- By:
- Publication type:
- Article
Bidirectional transcripts of the expanded <i>C9orf72</i> hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
- Published in:
- Acta Neuropathologica, 2013, v. 126, n. 6, p. 881, doi. 10.1007/s00401-013-1189-3
- By:
- Publication type:
- Article
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0246-7
- By:
- Publication type:
- Article
TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0195-1
- By:
- Publication type:
- Article
TDP-43 as a possible biomarker for frontotemporal lobar degeneration: a systematic review of existing antibodies.
- Published in:
- Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0195-1
- By:
- Publication type:
- Article
Sporadic Creutzfeldt-Jakob Disease and Other Proteinopathies in Comorbidity.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.596108
- By:
- Publication type:
- Article
A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708558
- By:
- Publication type:
- Article
Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Update.
- Published in:
- Neurodegenerative Diseases, 2007, v. 4, n. 2/3, p. 227, doi. 10.1159/000101847
- By:
- Publication type:
- Article
Exploration of the endo‐lysosomal pathway genes in frontotemporal dementia: The use of protein‐protein interaction networks to prioritize rare‐variant association analysis results: Genetics/molecular genetics.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.043624
- By:
- Publication type:
- Article
Three upstream ORFs in an alternative GRN 5′UTR influence downstream protein expression: Genetics/molecular genetics.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.038282
- By:
- Publication type:
- Article
O5‐02‐03: ONSET AGE MODIFIER FOR GRN‐ASSOCIATED FRONTOTEMPORAL LOBAR DEGENERATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P1616, doi. 10.1016/j.jalz.2019.06.4842
- By:
- Publication type:
- Article
P3‐128: EXPLORING THE MOLECULAR MECHANISM OF NEURONAL HYPEREXCITABILITY IN DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1116, doi. 10.1016/j.jalz.2018.06.1485
- By:
- Publication type:
- Article
P3‐121: RARE FRAMESHIFT AND DIGENIC MUTATIONS CONTRIBUTE TO DISEASE ETIOLOGY IN BELGIAN ALZHEIMER AND FRONTOTEMPORAL DEMENTIA PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1113, doi. 10.1016/j.jalz.2018.06.1478
- By:
- Publication type:
- Article
P3‐111: EVALUATING THE GENETIC IMPACT OF TIA1 GENE MUTATIONS IN A EUROPEAN COHORT OF ALS‐FTD SPECTRUM PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1110, doi. 10.1016/j.jalz.2018.06.1468
- By:
- Publication type:
- Article
A PROSPECTIVE NEUROGENETIC STUDY ON EARLY-ONSET DEMENTIA IN PATIENTS WITH UNCLEAR INITIAL DIAGNOSIS OF DEGENERATIVE DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1284, doi. 10.1016/j.jalz.2017.06.1934
- By:
- Publication type:
- Article
NEK1 GENETIC VARIABILITY IN A BELGIAN COHORT OF ALS AND FTD-ALS PATIENTS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1284, doi. 10.1016/j.jalz.2017.06.1935
- By:
- Publication type:
- Article
THE MAPT P.ARG406TRP IS A FOUNDER MUTATION IN BELGIUM AND PRESENTS WITH AN ALZHEIMER DISEASE DEMENTIA-LIKE PHENOTYPE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1286, doi. 10.1016/j.jalz.2017.06.1940
- By:
- Publication type:
- Article
DELETERIOUS ABCA7 MUTATIONS CONTRIBUTE TO EARLY-ONSET ALZHEIMER’S DISEASE AND ARE SUBJECT TO TRANSCRIPT RESCUE MECHANISMS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P589, doi. 10.1016/j.jalz.2017.07.220
- By:
- Publication type:
- Article
EXOME SEQUENCING IN ATYPICAL FRONTOTEMPORAL DEMENTIA WITH PERI-ROLANDIC ATROPHY SUGGESTS A ROLE FOR MATRIX METALLOPROTEINASES IN FRONTOTEMPORAL DEMENTIA.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1285, doi. 10.1016/j.jalz.2017.06.1936
- By:
- Publication type:
- Article
INCREASED CSF LEVELS OF BIOMARKERS FOR NEURODEGENERATION IN FTLD-GRN MUTATION CARRIERS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1058, doi. 10.1016/j.jalz.2016.06.2211
- By:
- Publication type:
- Article
DIAGNOSTIC PERFORMANCE OF NON-PHOSPHORYLATED TAU FRACTION (PTAU REL) IN CSF AS BIOMARKER FOR DIFFERENTIAL DEMENTIA DIAGNOSIS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P672, doi. 10.1016/j.jalz.2016.06.1320
- By:
- Publication type:
- Article
CSF EXPLORATORY BIOMARKER STUDY FOR (DIFFERENTIAL) DIAGNOSIS OF FRONTOTEMPORAL LOBAR DEGENERATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P471, doi. 10.1016/j.jalz.2016.06.924
- By:
- Publication type:
- Article
EEG DOMINANT FREQUENCY PEAK DIFFERENTIATES BETWEEN ALZHEIMER'S DISEASE AND FRONTOTEMPORAL LOBAR DEGENERATION.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P354, doi. 10.1016/j.jalz.2016.06.656
- By:
- Publication type:
- Article
Targeted re-sequencing of sorl1 in early-onset Alzheimer’s dementia: The european early onset dementia consortium.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P253, doi. 10.1016/j.jalz.2015.07.484
- By:
- Publication type:
- Article
Massive parallel gene panel sequencing in a belgian ftld cohort of causal genes associated with diverse neurodegenerative brain diseases.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P251, doi. 10.1016/j.jalz.2015.07.311
- By:
- Publication type:
- Article
Analysis of sqstm1 in patients with early-onset alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P135, doi. 10.1016/j.jalz.2014.04.077
- By:
- Publication type:
- Article
Next-generation sequencing gene discovery studies in early-onset dementia.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2014, v. 10, p. P136, doi. 10.1016/j.jalz.2014.04.079
- By:
- Publication type:
- Article
Geographical frequency of the FTLD-ALS causing C9orf72 repeat expansion mutation in an extended cohort ascertained within the European consortium on early-onset dementia
- Published in:
- 2012
- By:
- Publication type:
- Abstract
Genomic characterization of the C9orf72 promoter repeat in FTLD and ALS patients
- Published in:
- 2012
- By:
- Publication type:
- Abstract
The clinical presentation of C9orf72-associated frontotemporal lobar degeneration in an extended Flanders-Belgian cohort
- Published in:
- 2012
- By:
- Publication type:
- Abstract
Association of intermediate-length polyQ expansions in ATXN2 with ALS but not FTLD in a flanders-belgian cohort
- Published in:
- 2011
- By:
- Publication type:
- Abstract
TMEM106B the first common risk factor for FTLD: Replication in a clinically diagnosed cohort of FTLD patients
- Published in:
- 2010
- By:
- Publication type:
- Abstract
A multigenerational family with inherited, pathologically confirmed Creutzfeldt-Jakob disease unexplained by PRNP
- Published in:
- 2009
- By:
- Publication type:
- Abstract
P3-206: Genetic variability at the progranulin locus contributes to risk for Alzheimer's disease
- Published in:
- 2008
- By:
- Publication type:
- Abstract
P2-184: Identification of a novel chromosomal locus in a Belgian FTLD-MND family
- Published in:
- 2008
- By:
- Publication type:
- Abstract
O2-05-02: VCP mutation in frontotemporal lobar degeneration with frequent TDP-43–positive intranuclear inclusions
- Published in:
- 2008
- By:
- Publication type:
- Abstract
P3-196: Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian FTD (FTLD-U) family
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-158: A novel locus for autosomal dominant dementia with Lewy bodies on chromosome 2Q35-36
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-152: Direct evidence for a large inversion of the MAPT genomic region using fish of mechanically stretched chromosomes
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-149: An ancestral haplotype harbors a highly prevalent mutation for 17q21-linked tau-negative FTLD in Belgium
- Published in:
- 2006
- By:
- Publication type:
- Abstract
P3-196: Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian FTD (FTLD-U) family
- Published in:
- 2006
- By:
- Publication type:
- Abstract