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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
A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Correction to: A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.
- Published in:
- 2020
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- 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 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00693
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- Publication type:
- Article
A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0118-4
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- Publication type:
- Article
A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan.
- Published in:
- 2014
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- Publication type:
- journal article
AT(N) Classification and Clinical Characterization by CSF Biomarkers in Patients with Corticobasal Syndrome.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.072618
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- Publication type:
- Article
Application of AT(N) classification using two CSF A‐markers and two CSF N‐markers to Alzheimer's Clinical Syndrome (ACS) and non‐ACS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.071823
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- Publication type:
- Article
P1‐233: CSF BIOMARKERS OF ALZHEIMER'S CLINICAL SYNDROME.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P325, doi. 10.1016/j.jalz.2019.06.788
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- Publication type:
- Article
P1‐254: NON‐ALZHEIMER'S DISEASE SUBJECTS OCCASIONALLY MIMIC CSF PATTERN OF PRECLINICAL ALZHEIMER'S DISEASE.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P378, doi. 10.1016/j.jalz.2018.06.260
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- Publication type:
- Article
Electroclinical features of epilepsy in patients with juvenile type dentatorubral-pallidoluysian atrophy.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 12, p. 2041, doi. 10.1111/j.1528-1167.2008.01701.x
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- Publication type:
- Article
Cell Therapies under Clinical Trials and Polarized Cell Therapies in Pre-Clinical Studies to Treat Ischemic Stroke and Neurological Diseases: A Literature Review.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6194, doi. 10.3390/ijms21176194
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- Publication type:
- Article
Age-related demethylation of the TDP-43 autoregulatory region in the human motor cortex.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02621-0
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- Publication type:
- Article
Sporadic ataxias in Japan – a population-based epidemiological study.
- Published in:
- Cerebellum, 2008, v. 7, n. 2, p. 189, doi. 10.1007/s12311-008-0028-x
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- Publication type:
- Article
Deep learning classification of urinary sediment crystals with optimal parameter tuning.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-25385-x
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- Publication type:
- Article
Importance of the Q/N-rich segment for protein stability of endogenous mouse TDP-43.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19153-0
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- Publication type:
- Article
Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 202, doi. 10.1038/jhg.2012.5
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- Publication type:
- Article
Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 12, p. 5820, doi. 10.1093/nar/gkw499
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- Publication type:
- Article
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3′-phosphate and 3′-phosphoglycolate ends.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 11, p. 3797, doi. 10.1093/nar/gkm158
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- Publication type:
- Article
Cytosolic dsDNA of mitochondrial origin induces cytotoxicity and neurodegeneration in cellular and zebrafish models of Parkinson's disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23452-x
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- Publication type:
- Article
Robustness and Vulnerability of the Autoregulatory System That Maintains Nuclear TDP-43 Levels: A Trade-off Hypothesis for ALS Pathology Based on in Silico Data.
- Published in:
- Frontiers in Neuroscience, 2018, p. 1, doi. 10.3389/fnins.2018.00028
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- Publication type:
- Article
Cataract Surgery and Chronic Kidney Disease: A Hospital-based Prospective Cohort Study.
- Published in:
- Internal Medicine, 2024, v. 63, n. 9, p. 1207, doi. 10.2169/internalmedicine.2176-23
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- Publication type:
- Article
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
- Published in:
- Nature Genetics, 2001, v. 29, n. 2, p. 184, doi. 10.1038/ng1001-184
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- Publication type:
- Article
Expanded polyglutamine stretches interact with TAF<sub>II</sub>130, interfering with CREB-dependent transcription.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 29, doi. 10.1038/79139
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- Publication type:
- Article
Clinicopathological characteristics of patients with amyotrophic lateral sclerosis resulting in a totally locked-in state (communication Stage V).
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0379-3
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- Publication type:
- Article
Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0335-2
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- Publication type:
- Article
Microglia preconditioned by oxygen-glucose deprivation promote functional recovery in ischemic rats.
- Published in:
- Scientific Reports, 2017, p. 42582, doi. 10.1038/srep42582
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- Publication type:
- Article
From bench to bedside: US-Japan Collaborative Workshop on the NVU.
- Published in:
- Journal of Physiological Sciences, 2024, v. 74, p. 1, doi. 10.1186/s12576-024-00917-4
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- Publication type:
- Article
Polyglutamine Diseases: Where does Toxicity Come from? What is Toxicity? Where are We Going?
- Published in:
- Journal of Molecular Cell Biology, 2010, v. 2, n. 4, p. 180, doi. 10.1093/jmcb/mjq005
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- Publication type:
- Article
Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043120
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- Publication type:
- Article
Accuracy of a machine learning method based on structural and locational information from AlphaFold2 for predicting the pathogenicity of TARDBP and FUS gene variants in ALS.
- Published in:
- BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05338-5
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- Publication type:
- Article
Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation.
- Published in:
- 2009
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- Publication type:
- Letter
Quantitative evaluation of brainstem involvement in multiple system atrophy by diffusion-weighted MR imaging.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 9, p. 1121, doi. 10.1007/s00415-004-0494-0
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- Publication type:
- Article
Polyglutamine Domain Proteins with Expanded Repeats Bind Neurofilament, Altering the Neurofilament Network.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 893, n. 1, p. 192, doi. 10.1111/j.1749-6632.1999.tb07826.x
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- Publication type:
- Article
Do patients with multiple system atrophy have decreased nocturnal urinary concentration?
- Published in:
- 2021
- By:
- Publication type:
- Letter
Reduced bowel sounds in Parkinson's disease and multiple system atrophy patients.
- Published in:
- Clinical Autonomic Research, 2011, v. 21, n. 3, p. 181, doi. 10.1007/s10286-010-0102-6
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- Publication type:
- Article
Mutational Analysis in Early-Onset Familial Dementia in the Japanese Population.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2008, v. 26, n. 1, p. 43, doi. 10.1159/000141483
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- Publication type:
- Article
Phosphorylated TDP-43 aggregates in skeletal and cardiac muscle are a marker of myogenic degeneration in amyotrophic lateral sclerosis and various conditions.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0824-1
- By:
- Publication type:
- Article
Imaging Characteristics for Predicting Cognitive Impairment in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.876437
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- Publication type:
- Article
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
Angiogenesis in the ischemic core: A potential treatment target?
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 2019, v. 39, n. 5, p. 753, doi. 10.1177/0271678X19834158
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- Publication type:
- Article
A case of isolated dystextia due to subcortical infarction: a novel condition of digital device era.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Churg-Strauss syndrome and the leukotriene receptor antagonist pranlukast.
- Published in:
- Clinical Rheumatology, 2005, v. 24, n. 6, p. 661, doi. 10.1007/s10067-004-1035-z
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- Publication type:
- Article
The Japan MSA registry: A multicenter cohort study of multiple system atrophy.
- Published in:
- Neurology & Clinical Neuroscience, 2024, v. 12, n. 5, p. 271, doi. 10.1111/ncn3.12809
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- Publication type:
- Article
A new Japanese amyotrophic lateral sclerosis family with TARDBP (TDP‐43) mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2019, v. 7, n. 2, p. 101, doi. 10.1111/ncn3.12250
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- Publication type:
- Article
Dysregulation of stress granule dynamics by DCTN1 deficiency exacerbates TDP-43 pathology in Drosophila models of ALS/FTD.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01729-8
- By:
- Publication type:
- Article
Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01692-w
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- Publication type:
- Article