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A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Black rice bran intake reduces phosphorylated tau levels and enhances insulin signaling in the brain of aged normal mice.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2022, v. 86, n. 11, p. 1570, doi. 10.1093/bbb/zbac125
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- Publication type:
- Article
Effects of super-hard rice bread blended with black rice bran on amyloid β peptide production and abrupt increase in postprandial blood glucose levels in mice.
- Published in:
- Bioscience, Biotechnology & Biochemistry, 2017, v. 81, n. 2, p. 323, doi. 10.1080/09168451.2016.1240605
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- Publication type:
- Article
A rare functional variant of SHARPIN attenuates the inflammatory response and associates with increased risk of late-onset Alzheimer's disease.
- Published in:
- Molecular Medicine, 2019, v. 25, n. 1, p. N.PAG, doi. 10.1186/s10020-019-0090-5
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- Publication type:
- Article
Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: A correlation with CAG repeat length.
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- Movement Disorders, 2010, v. 25, n. 11, p. 1694, doi. 10.1002/mds.23167
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- Publication type:
- Article
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.
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- Movement Disorders, 2009, v. 24, n. 9, p. 1393, doi. 10.1002/mds.22556
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- Publication type:
- Article
Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.
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- Movement Disorders, 2007, v. 22, n. 6, p. 857, doi. 10.1002/mds.21443
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- Publication type:
- Article
An autopsy case of diffuse atypical argyrophilic grain disease (AGD) with presenile onset and three‐year course of motor and cognitive impairment.
- Published in:
- Neuropathology, 2024, v. 44, n. 3, p. 200, doi. 10.1111/neup.12949
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- Publication type:
- Article
Four‐repeat tauopathies and late‐onset psychiatric disorders: Etiological relevance or incidental findings?
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- Neuropathology, 2023, v. 43, n. 1, p. 51, doi. 10.1111/neup.12820
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- Publication type:
- Article
An autopsy case of corticobasal degeneration with inferior olivary hypertrophy.
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- Neuropathology, 2021, v. 41, n. 3, p. 226, doi. 10.1111/neup.12725
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- Publication type:
- Article
Globular glial tauopathy Type I presenting with behavioral variant frontotemporal dementia.
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- Neuropathology, 2020, v. 40, n. 5, p. 515, doi. 10.1111/neup.12668
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- Publication type:
- Article
Globular glial tauopathy Type II: Clinicopathological study of two autopsy cases.
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- Neuropathology, 2019, v. 39, n. 2, p. 111, doi. 10.1111/neup.12532
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- Publication type:
- Article
An autopsy case of globular glial tauopathy presenting with clinical features of motor neuron disease with dementia and iron deposition in the motor cortex.
- Published in:
- 2018
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- Publication type:
- Case Study
Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation.
- Published in:
- Neuropathology, 2016, v. 36, n. 4, p. 365, doi. 10.1111/neup.12280
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- Publication type:
- Article
Alzheimer's disease: Report of two autopsy cases with a clinical diagnosis of corticobasal degeneration.
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- Neuropathology, 2010, v. 30, n. 2, p. 140, doi. 10.1111/j.1440-1789.2009.01062.x
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- Publication type:
- Article
Frequent Germline and Somatic Single Nucleotide Variants in the Promoter Region of the Ribosomal RNA Gene in Japanese Lung Adenocarcinoma Patients.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 11, p. 2409, doi. 10.3390/cells9112409
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- Publication type:
- Article
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 281, doi. 10.1038/jhg.2015.15
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- Publication type:
- Article
Development of a Novel Nutrition-Related Multivariate Biomarker for Mild Cognitive Impairment Based on the Plasma Free Amino Acid Profile.
- Published in:
- Nutrients, 2022, v. 14, n. 3, p. 637, doi. 10.3390/nu14030637
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- Publication type:
- Article
Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds: case report.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Enhanced Accumulation of Phosphorylated α-Synuclein and Elevated β-Amyloid 42/40 Ratio Caused by Expression of the Presenilin-1 ΔT440 Mutant Associated with Familial Lewy Body Disease and Variant Alzheimer's Disease.
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 48, p. 13092, doi. 10.1523/JNEUROSCI.4244-07.2007
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- Publication type:
- Article
Identification of calcium and integrin‐binding protein 1 as a novel regulator of production of amyloid β peptide using CRISPR/Cas9‐based screening system.
- Published in:
- FASEB Journal, 2020, v. 34, n. 6, p. 7661, doi. 10.1096/fj.201902966RR
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- Publication type:
- Article
Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
- Published in:
- Neurogenetics, 2015, v. 16, n. 4, p. 265, doi. 10.1007/s10048-015-0451-3
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- Publication type:
- Article
A possible variant of neuro-Behçet disease presenting chronic progressive ataxia without mucocutaneo-ocular symptoms.
- Published in:
- Rheumatology International, 2006, v. 27, n. 1, p. 61, doi. 10.1007/s00296-006-0171-y
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- Publication type:
- Article
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01684-1
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- Publication type:
- Article
Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1800, doi. 10.1093/hmg/ddr063
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- Publication type:
- Article
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 8, p. 2769, doi. 10.1093/brain/awac091
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- Publication type:
- Article
Change in Cerebrospinal Fluid Tau Microtubule Binding Region Detects Symptom Onset, Cognitive Decline, Tangles, and Atrophy in Dominantly Inherited Alzheimer's Disease.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 6, p. 1158, doi. 10.1002/ana.26620
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- Publication type:
- Article
Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene.
- Published in:
- 2013
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- Publication type:
- Report
Involvement of Onuf’s nucleus in Machado–Joseph disease: a morphometric and immunohistochemical study.
- Published in:
- Acta Neuropathologica, 2010, v. 120, n. 4, p. 439, doi. 10.1007/s00401-010-0699-5
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- Publication type:
- Article
Sporadic four-repeat tauopathy with frontotemporal lobar degeneration, Parkinsonism, and motor neuron disease: a distinct clinicopathological and biochemical disease entity.
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- Acta Neuropathologica, 2010, v. 120, n. 1, p. 21, doi. 10.1007/s00401-010-0649-2
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- Publication type:
- Article
Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado–Joseph disease.
- Published in:
- Acta Neuropathologica, 2009, v. 118, n. 4, p. 553, doi. 10.1007/s00401-009-0552-x
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- Publication type:
- Article
Cardiac sympathetic denervation in Parkinson’s disease linked to SNCA duplication.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Analysis of the expression level of α-synuclein mRNA using postmortem brain samples from pathologically confirmed cases of multiple system atrophy.
- Published in:
- Acta Neuropathologica, 2001, v. 102, n. 2, p. 188, doi. 10.1007/s004010100367
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- Publication type:
- Article
Sporadic Japanese case of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a de novo p.Phe849del mutation in CSF1R.
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- Neurology & Clinical Neuroscience, 2020, v. 8, n. 2, p. 96, doi. 10.1111/ncn3.12367
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- Publication type:
- Article
Sporadic case of young‐onset rapidly progressive dementia with a novel frameshift mutation in exon 3 of CSF1R.
- Published in:
- Neurology & Clinical Neuroscience, 2019, v. 7, n. 2, p. 103, doi. 10.1111/ncn3.12259
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- Publication type:
- Article
Neuronal Intranuclear Inclusion Disease Presenting with Voice Tremor.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 3, p. 404, doi. 10.1002/mdc3.13382
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- Publication type:
- Article
Possibility for Prevention of Type 2 Diabetes Mellitus and Dementia Using Three Kinds of Brown Rice Blends after High-Pressure Treatment.
- Published in:
- Foods, 2022, v. 11, n. 6, p. 818, doi. 10.3390/foods11060818
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- Publication type:
- Article
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
- Published in:
- 2020
- By:
- Publication type:
- Letter
HTRA1 -Related Cerebral Small Vessel Disease: A Review of the Literature.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00545
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- Publication type:
- Article
Loss of kallikrein-related peptidase 7 exacerbates amyloid pathology in Alzheimer's disease model mice.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 3, p. 1, doi. 10.15252/emmm.201708184
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- Publication type:
- Article
Multiple γ-secretase product peptides are coordinately increased in concentration in the cerebrospinal fluid of a subpopulation of sporadic Alzheimer's disease subjects.
- Published in:
- Molecular Neurodegeneration, 2012, v. 7, n. 1, p. 16, doi. 10.1186/1750-1326-7-16
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- Publication type:
- Article
Relative Ratio and Level of Amyloid-β 42 Surrogate in Cerebrospinal Fluid of Familial Alzheimer Disease Patients with Presenilin 1 Mutations.
- Published in:
- Neurodegenerative Diseases, 2014, v. 13, n. 2/3, p. 166, doi. 10.1159/000355258
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- Publication type:
- Article
Correlated levels of cerebrospinal fluid pathogenic proteins in drug-naïve Parkinson's disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Initial symptoms of early‐onset dementia in Japan: nationwide survey.
- Published in:
- Psychogeriatrics, 2023, v. 23, n. 3, p. 422, doi. 10.1111/psyg.12949
- By:
- Publication type:
- Article
Involvement of inflammation in the medial temporal region in the development of agitation in Alzheimer's disease: an in vivo positron emission tomography study.
- Published in:
- Psychogeriatrics, 2023, v. 23, n. 1, p. 126, doi. 10.1111/psyg.12915
- By:
- Publication type:
- Article
Prevalence and subtype distribution of early‐onset dementia in Japan.
- Published in:
- Psychogeriatrics, 2020, v. 20, n. 6, p. 817, doi. 10.1111/psyg.12596
- By:
- Publication type:
- Article
Remarkable behavioural signs and progressive non‐fluent aphasia in a patient with adult‐onset leucoencephalopathy with axonal spheroids and pigmented glia.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Low serum 25-hydroxyvitamin D increases cognitive impairment in elderly people.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Effect of apolipoprotein E ∊4 allele on the progression of cognitive decline in the early stage of Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: Translational Research & Clinical Interventions, 2020, v. 6, n. 1, p. 1, doi. 10.1002/trc2.12007
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- Publication type:
- Article