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The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.
- Published in:
- Movement Disorders, 2008, v. 23, n. 6, p. 892, doi. 10.1002/mds.21970
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- Publication type:
- Article
Variability of the Clinical Phenotype in an Italian Family with Dementia Associated with an Intronic Deletion in the GRN Gene.
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- Journal of Alzheimer's Disease, 2011, v. 26, n. 3, p. 583, doi. 10.3233/JAD-2011-110332
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- Publication type:
- Article
A Novel Progranulin Mutation Causing Frontotemporal Lobar Degeneration with Heterogeneous Phenotypic Expression.
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- Journal of Alzheimer's Disease, 2011, v. 23, n. 1, p. 7, doi. 10.3233/JAD-2010-101461
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- Publication type:
- Article
Plasma Small Extracellular Vesicles with Complement Alterations in GRN / C9orf72 and Sporadic Frontotemporal Lobar Degeneration.
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- Cells (2073-4409), 2022, v. 11, n. 3, p. 488, doi. 10.3390/cells11030488
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- Publication type:
- Article
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping.
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- Alzheimer's Research & Therapy, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13195-022-00962-4
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- Publication type:
- Article
Mutations in MAPT give rise to aneuploidy in animal models of tauopathy.
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- Neurogenetics, 2014, v. 15, n. 1, p. 31, doi. 10.1007/s10048-013-0380-y
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- Article
Frontotemporal lobar degeneration: old knowledge and new insight into the pathogenetic mechanisms of tau mutations.
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- Frontiers in Aging Neuroscience, 2015, v. 7, p. 1, doi. 10.3389/fnagi.2015.00192
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- Publication type:
- Article
Early-onset phenotype of bi-allelic GRN mutations.
- Published in:
- 2021
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- Publication type:
- letter
Circulating Non-Coding RNA Levels Are Altered in Autosomal Dominant Frontotemporal Dementia.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14723, doi. 10.3390/ijms232314723
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- Article
Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13753, doi. 10.3390/ijms232213753
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- Publication type:
- Article
The PINK1 p.Asn521Thr Variant Is Associated with Earlier Disease Onset in GRN/C9orf72 Frontotemporal Lobar Degeneration.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12847, doi. 10.3390/ijms232112847
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- Publication type:
- Article
Plasma Small Extracellular Vesicle Cathepsin D Dysregulation in GRN/C9orf72 and Sporadic Frontotemporal Lobar Degeneration.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810693
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- Publication type:
- Article
Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study.
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- Neurodegenerative Diseases, 2012, v. 9, n. 3, p. 121, doi. 10.1159/000333132
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- Article
Clinical phenotypic variability in an Italian family bearing the IVS6+5_8delGTGA mutation in PGRN gene
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- 2011
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- Abstract
Tau mutations lead to chromosome aberrations: A new role of tau in the pathogenesis of genetic tauopathies?
- Published in:
- 2010
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- Publication type:
- Abstract
Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.
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- Journal of Neurology, 2024, v. 271, n. 7, p. 4203, doi. 10.1007/s00415-024-12338-9
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- Publication type:
- Article
Correction to: The cognitive phenotypes of Creutzfeldt‑Jakob disease: comparison with secondary metabolic encephalopathy.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6609, doi. 10.1007/s10072-021-05795-x
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- Publication type:
- Article
The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy.
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- Neurological Sciences, 2022, v. 43, n. 6, p. 3703, doi. 10.1007/s10072-021-05795-x
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- Publication type:
- Article
New MAPT variant in a FTD patient with Alzheimer's disease phenotype at onset.
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- 2021
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- Publication type:
- Letter
Singular cases of Alzheimer's disease disclose new and old genetic "acquaintances".
- Published in:
- 2021
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- Publication type:
- journal article
A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.
- Published in:
- Neurological Sciences, 2012, v. 33, n. 1, p. 93, doi. 10.1007/s10072-011-0655-8
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- Publication type:
- Article
Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family.
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- Neurological Sciences, 2008, v. 29, n. 6, p. 405, doi. 10.1007/s10072-008-1025-z
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- Publication type:
- Article
A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors.
- Published in:
- Alzheimer's Research & Therapy, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13195-024-01420-z
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- Publication type:
- Article
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
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- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.1085406
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- Publication type:
- Article
A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia.
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- PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185797
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- Publication type:
- Article
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks ( TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139 Arg.
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- Brain Pathology, 2018, v. 28, n. 1, p. 72, doi. 10.1111/bpa.12480
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- Publication type:
- Article
Effects of Formalin Fixation, Paraffin Embedding, and Time of Storage on DNA Preservation in Brain Tissue: A BrainNet Europe Study.
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- Brain Pathology, 2007, v. 17, n. 3, p. 297, doi. 10.1111/j.1750-3639.2007.00073.x
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- Publication type:
- Article
Creutzfeldt-Jakob Disease: Carnoy's Fixative Improves the Immunohistochemistry of the Proteinase K- Resistant Prion Protein.
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- Brain Pathology, 2000, v. 10, n. 1, p. 31, doi. 10.1111/j.1750-3639.2000.tb00240.x
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- Publication type:
- Article
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1284459
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- Publication type:
- Article
Familial frontotemporal dementia associated with the novel MAPT mutation T427M.
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- Journal of Neurology, 2005, v. 252, n. 12, p. 1543, doi. 10.1007/s00415-005-0879-8
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- Publication type:
- Article
A Novel Italian Presenilin 2 Gene Mutation with Prevalent Behavioral Phenotype.
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- Journal of Alzheimer's Disease, 2009, v. 16, n. 3, p. 509, doi. 10.3233/JAD-2009-0986
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- Publication type:
- Article
Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.
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- Annals of Neurology, 2000, v. 48, n. 2, p. 269, doi. 10.1002/1531-8249(200008)48:2<269::AID-ANA24>3.0.CO;2-V
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- Publication type:
- Article
SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy.
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- European Journal of Neurology, 2022, v. 29, n. 11, p. 3139, doi. 10.1111/ene.15487
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- Article
MAPT Q336H mutation: Intrafamilial phenotypic heterogeneity in a new Italian family.
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- European Journal of Neurology, 2022, v. 29, n. 5, p. 1529, doi. 10.1111/ene.15250
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- Article
Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 3, p. 2282, doi. 10.1002/alz.13550
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- Publication type:
- Article
Brain MRI signatures of atrophy in genetic frontotemporal lobar degeneration.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.053774
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- Publication type:
- Article
Conversion of the BASE Prion Strain into the BSE Strain: The Origin of BSE?
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- PLoS Pathogens, 2007, v. 3, n. 3, p. 0304, doi. 10.1371/journal.ppat.0030031
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- Publication type:
- Article