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Progress in Hereditary Tauopathies: A Mutation in the Tau Gene (G389R) Causes a Pick Disease-like Syndrome.
- Published in:
- Annals of the New York Academy of Sciences, 2000, v. 920, n. 1, p. 52, doi. 10.1111/j.1749-6632.2000.tb06905.x
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- Publication type:
- Article
Tau Gene Mutations in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 (FTDP-17): Their Relevance for Understanding the Neurogenerative Process.
- Published in:
- Annals of the New York Academy of Sciences, 2000, v. 920, n. 1, p. 74, doi. 10.1111/j.1749-6632.2000.tb06907.x
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- Publication type:
- Article
Presenilin-1 280Glu→Ala Mutation Alters C-Terminal APP Processing Yielding Longer Aβ Peptides: Implications for Alzheimer's Disease.
- Published in:
- Molecular Medicine, 2008, v. 14, n. 3/4, p. 184, doi. 10.2119/2007-00094.VanVickle
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- Publication type:
- Article
Rapidly progressive primary progressive aphasia and parkinsonism with novel GRN mutation.
- Published in:
- 2017
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- Publication type:
- case study
TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.
- Published in:
- Movement Disorders, 2009, v. 24, n. 12, p. 1842, doi. 10.1002/mds.22697
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- Publication type:
- Article
Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC).
- Published in:
- Movement Disorders, 2009, v. 24, n. 11, p. 1676, doi. 10.1002/mds.22669
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- Publication type:
- Article
Neuropathologic assessment of participants in two multi-center longitudinal observational studies: The Alzheimer Disease Neuroimaging Initiative (ADNI) and the Dominantly Inherited Alzheimer Network (DIAN).
- Published in:
- Neuropathology, 2015, v. 35, n. 4, p. 390, doi. 10.1111/neup.12205
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- Publication type:
- Article
Neocortical Variation of Aβ Load in Fully Expressed, Pure Alzheimer's Disease.
- Published in:
- Journal of Alzheimer's Disease, 2010, v. 19, n. 1, p. 57, doi. 10.3233/JAD-2010-1205
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- Publication type:
- Article
Gerstmann-Sträussler-Scheinker disease subtypes efficiently transmit in bank voles as genuine prion diseases.
- Published in:
- Scientific Reports, 2016, p. 20443, doi. 10.1038/srep20443
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- Publication type:
- Article
White matter hyperintensities and the mediating role of cerebral amyloid angiopathy in dominantly-inherited Alzheimer’s disease.
- Published in:
- PLoS ONE, 2018, v. 13, n. 5, p. 1, doi. 10.1371/journal.pone.0195838
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- Publication type:
- Article
Nerve cell atrophy and loss in the inferior olivary complex of 'Purkinje cell degeneration' mutant mice.
- Published in:
- Journal of Comparative Neurology, 1987, v. 260, n. 3, p. 409, doi. 10.1002/cne.902600307
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- Publication type:
- Article
Aggregated, Wild-Type Prion Protein Causes Neurological Dysfunction and Synaptic Abnormalities.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 49, p. 13258, doi. 10.1523/JNEUROSCI.3109-08.2008
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- Publication type:
- Article
Expression of a Mutant Form of the Ferritin Light Chain Gene Induces Neurodegeneration and Iron Overload in Transgenic Mice.
- Published in:
- Journal of Neuroscience, 2008, v. 27, n. 53, p. 60, doi. 10.1523/JNEUROSCI.3962-07.2008
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- Publication type:
- Article
The Psen1-L166P-knock-in mutation leads to amyloid deposition in human wild-type amyloid precursor protein YAC transgenic mice.
- Published in:
- FASEB Journal, 2012, v. 26, n. 7, p. 2899, doi. 10.1096/fj.12-205542
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- Publication type:
- Article
Abnormal iron metabolism and oxidative stress in mice expressing a mutant form of the ferritin light polypeptide gene.
- Published in:
- Journal of Neurochemistry, 2009, v. 109, n. 4, p. 1067, doi. 10.1111/j.1471-4159.2009.06028.x
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- Publication type:
- Article
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
- Published in:
- Nature Communications, 2015, v. 6, n. 6, p. 7247, doi. 10.1038/ncomms8247
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- Publication type:
- Article
Genetic Heterogeneity in Alzheimer Disease and Implications for Treatment Strategies.
- Published in:
- Current Neurology & Neuroscience Reports, 2014, v. 14, n. 11, p. 1, doi. 10.1007/s11910-014-0499-8
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- Publication type:
- Article
Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy.
- Published in:
- Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00747-3
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- Publication type:
- Article
Efficient transmission of human prion diseases to a glycan-free prion protein-expressing host.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1539, doi. 10.1093/brain/awad399
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- Publication type:
- Article
Autosomal dominant and sporadic late onset Alzheimer's disease share a common in vivo pathophysiology.
- Published in:
- 2022
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- Publication type:
- journal article
11C-PiB PET can underestimate brain amyloid-β burden when cotton wool plaques are numerous.
- Published in:
- 2022
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- Publication type:
- journal article
LATE to the PART-y.
- Published in:
- 2019
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- Publication type:
- letter
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease.
- Published in:
- 2019
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- Publication type:
- journal article
Preferential degradation of cognitive networks differentiates Alzheimer's disease from ageing.
- Published in:
- 2018
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- Publication type:
- journal article
Lewy Body Disease is a Contributor to Logopenic Progressive Aphasia Phenotype.
- Published in:
- 2021
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- Publication type:
- journal article
White matter hyperintensities are a core feature of Alzheimer's disease: Evidence from the dominantly inherited Alzheimer network.
- Published in:
- 2016
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- Publication type:
- journal article
Microglial Heterogeneity and Its Potential Role in Driving Phenotypic Diversity of Alzheimer's Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2780, doi. 10.3390/ijms22052780
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- Publication type:
- Article
Correction: Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains.
- Published in:
- 2015
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- Publication type:
- Correction Notice
Bank Vole Prion Protein As an Apparently Universal Substrate for RT-QuIC-Based Detection and Discrimination of Prion Strains.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.ppat.1004983
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- Publication type:
- Article
The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families.
- Published in:
- Neurogenetics, 2006, v. 7, n. 4, p. 277, doi. 10.1007/s10048-006-0053-1
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- Publication type:
- Article
Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.
- Published in:
- Molecular Neurobiology, 1994, v. 8, n. 1, p. 41, doi. 10.1007/BF02778006
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- Publication type:
- Article
Mutation ∆K281 in MAPT causes Pick's disease.
- Published in:
- Acta Neuropathologica, 2023, v. 146, n. 2, p. 211, doi. 10.1007/s00401-023-02598-6
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- Publication type:
- Article
Cross-β helical filaments of Tau and TMEM106B in gray and white matter of multiple system tauopathy with presenile dementia.
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- Acta Neuropathologica, 2023, v. 145, n. 5, p. 707, doi. 10.1007/s00401-023-02563-3
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- Publication type:
- Article
New SNCA mutation and structures of α-synuclein filaments from juvenile-onset synucleinopathy.
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- Acta Neuropathologica, 2023, v. 145, n. 5, p. 561, doi. 10.1007/s00401-023-02550-8
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- Publication type:
- Article
Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 3, p. 325, doi. 10.1007/s00401-022-02533-1
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- Publication type:
- Article
LATE-NC staging in routine neuropathologic diagnosis: an update.
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- Acta Neuropathologica, 2023, v. 145, n. 2, p. 159, doi. 10.1007/s00401-022-02524-2
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- Publication type:
- Article
Cryo-EM structures of prion protein filaments from Gerstmann–Sträussler–Scheinker disease.
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- Acta Neuropathologica, 2022, v. 144, n. 3, p. 509, doi. 10.1007/s00401-022-02461-0
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- Publication type:
- Article
Phenotypic diversity of genetic Creutzfeldt–Jakob disease: a histo-molecular-based classification.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 4, p. 707, doi. 10.1007/s00401-021-02350-y
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- Publication type:
- Article
Comparing amyloid-β plaque burden with antemortem PiB PET in autosomal dominant and late-onset Alzheimer disease.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 4, p. 689, doi. 10.1007/s00401-021-02342-y
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- Publication type:
- Article
Structure of Tau filaments in Prion protein amyloidoses.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 2, p. 227, doi. 10.1007/s00401-021-02336-w
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- Publication type:
- Article
Correction to: Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Cryo-EM structures of tau filaments from Alzheimer's disease with PET ligand APN-1607.
- Published in:
- Acta Neuropathologica, 2021, v. 141, n. 5, p. 697, doi. 10.1007/s00401-021-02294-3
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- Publication type:
- Article
Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.
- Published in:
- 2020
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- Publication type:
- Correction Notice
4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration.
- Published in:
- Acta Neuropathologica, 2020, v. 139, n. 1, p. 63, doi. 10.1007/s00401-019-02080-2
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- Publication type:
- Article
C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 5, p. 795, doi. 10.1007/s00401-019-02045-5
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- Publication type:
- Article
Seeding selectivity and ultrasensitive detection of tau aggregate conformers of Alzheimer disease.
- Published in:
- Acta Neuropathologica, 2019, v. 137, n. 4, p. 585, doi. 10.1007/s00401-018-1947-3
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- Publication type:
- Article
Tau filaments from multiple cases of sporadic and inherited Alzheimer’s disease adopt a common fold.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 5, p. 699, doi. 10.1007/s00401-018-1914-z
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- Publication type:
- Article
Ultrasensitive and selective detection of 3-repeat tau seeding activity in Pick disease brain and cerebrospinal fluid.
- Published in:
- Acta Neuropathologica, 2017, v. 133, n. 5, p. 751, doi. 10.1007/s00401-017-1692-z
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- Publication type:
- Article
The phosphatase calcineurin regulates pathological TDP-43 phosphorylation.
- Published in:
- Acta Neuropathologica, 2016, v. 132, n. 4, p. 545, doi. 10.1007/s00401-016-1600-y
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- Publication type:
- Article
Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy.
- Published in:
- Acta Neuropathologica, 2016, v. 131, n. 1, p. 87, doi. 10.1007/s00401-015-1509-x
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- Publication type:
- Article