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Reply: Neuronal intranuclear (hyaline) inclusion disease and fragile X-associated tremor/ataxia syndrome: a morphological and molecular dilemma.
- Published in:
- 2017
- By:
- Publication type:
- letter
Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
- Published in:
- Movement Disorders, 2013, v. 28, n. 4, p. 552, doi. 10.1002/mds.25296
- By:
- Publication type:
- Article
Putaminal magnetic resonance imaging features at various magnetic field strengths in multiple system atrophy.
- Published in:
- Movement Disorders, 2010, v. 25, n. 12, p. 1916, doi. 10.1002/mds.23196
- By:
- Publication type:
- Article
Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 452, doi. 10.1007/s004390000400
- By:
- Publication type:
- Article
Lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor antagonist, ameliorates disease progression in amyotrophic lateral sclerosis model mice.
- Published in:
- Cell Death Discovery, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41420-023-01758-7
- By:
- Publication type:
- Article
Clinicopathological features of progressive supranuclear palsy with asymmetrical atrophy of the superior cerebellar peduncle.
- Published in:
- Neuropathology, 2023, v. 43, n. 3, p. 233, doi. 10.1111/neup.12868
- By:
- Publication type:
- Article
Obstructive hydrocephalus and leptomeningeal dissemination with an unknown primary lesion in a 67-year-old man.
- Published in:
- Neuropathology, 2014, v. 34, n. 6, p. 596, doi. 10.1111/neup.12136
- By:
- Publication type:
- Article
Increased number of astrocytes and macrophages/microglial cells in the corpus callosum in amyotrophic lateral sclerosis.
- Published in:
- Neuropathology, 2013, v. 33, n. 6, p. 591, doi. 10.1111/neup.12027
- By:
- Publication type:
- Article
Neuropathology and omics in motor neuron diseases.
- Published in:
- Neuropathology, 2012, v. 32, n. 4, p. 458, doi. 10.1111/j.1440-1789.2011.01281.x
- By:
- Publication type:
- Article
MM2-cortical-type sporadic Creutzfeldt-Jakob disease with early stage cerebral cortical pathology presenting with a rapidly progressive clinical course.
- Published in:
- Neuropathology, 2008, v. 28, n. 6, p. 645, doi. 10.1111/j.1440-1789.2008.00904.x
- By:
- Publication type:
- Article
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep07132
- By:
- Publication type:
- Article
Comprehensive behavioral study and proteomic analyses of CRMP2-deficient mice.
- Published in:
- Genes to Cells, 2016, v. 21, n. 10, p. 1059, doi. 10.1111/gtc.12403
- By:
- Publication type:
- Article
CRMP1 and CRMP2 have synergistic but distinct roles in dendritic development.
- Published in:
- Genes to Cells, 2016, v. 21, n. 9, p. 994, doi. 10.1111/gtc.12399
- By:
- Publication type:
- Article
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 5, p. 277, doi. 10.1038/jhg.2015.13
- By:
- Publication type:
- Article
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 187, doi. 10.1038/jhg.2015.7
- By:
- Publication type:
- Article
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 292, doi. 10.1038/jhg.2014.18
- By:
- Publication type:
- Article
Two cases of anaphylactic shock by methylprednisolone in neuromyelitis optica.
- Published in:
- Multiple Sclerosis Journal, 2018, v. 24, n. 11, p. 1514, doi. 10.1177/1352458518763099
- By:
- Publication type:
- Article
Identification of overexpressed genes in hepatocellular carcinoma, with special reference to ubiquitin-conjugating enzyme E2C gene expression.
- Published in:
- International Journal of Cancer, 2007, v. 121, n. 1, p. 33, doi. 10.1002/ijc.22605
- By:
- Publication type:
- Article
Natural killer, but not natural killer T, cells play a necessary role in the promotion of an innate antitumor response induced by IL-18.
- Published in:
- International Journal of Cancer, 2003, v. 103, n. 4, p. 508, doi. 10.1002/ijc.10844
- By:
- Publication type:
- Article
Intratumoral injection of dendritic cells after treatment of anticancer drugs induces tumor-specific antitumor effect in vivo.
- Published in:
- International Journal of Cancer, 2002, v. 101, n. 3, p. 265, doi. 10.1002/ijc.10597
- By:
- Publication type:
- Article
A MAGE-1-encoded HLA-A24-binding synthetic peptide induces specific anti-tumor cytotoxic T lymphocytes.
- Published in:
- International Journal of Cancer, 1999, v. 80, n. 2, p. 169, doi. 10.1002/(SICI)1097-0215(19990118)80:2<169::AID-IJC1>3.0.CO;2-P
- By:
- Publication type:
- Article
p62/SQSTMl Differentially Removes the Toxic Mutant Androgen Receptor via Autophagy and Inclusion Formation in a Spinal and Bulbar Muscular Atrophy Mouse Model.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 18, p. 7710, doi. 10.1523/JNEUROSCI.3021-12.2013
- By:
- Publication type:
- Article
Disrupted Transforming Growth Factor-ß Signaling in Spinal and Bulbar Muscular Atrophy.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 16, p. 5703, doi. 10.1523/JNEUROSCI.0388-10.2010
- By:
- Publication type:
- Article
Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk.
- Published in:
- Journal of Neuroscience, 2009, v. 29, n. 7, p. 1987, doi. 10.1523/JNEUROSCI.4072-08.2009
- By:
- Publication type:
- Article
Primary aldosteronism in patients with acute stroke: prevalence and diagnosis during initial hospitalization.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Gene Expression Profiling toward Understanding of ALS Pathogenesis.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1086, n. 1, p. 1, doi. 10.1196/annals.1377.011
- By:
- Publication type:
- Article
Alleviating Neurodegeneration by an Anticancer Agent.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1086, n. 1, p. 21, doi. 10.1196/annals.1377.012
- By:
- Publication type:
- Article
Erratum to: PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
- Published in:
- 2014
- By:
- Publication type:
- Erratum
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 85, doi. 10.1007/s10048-013-0384-7
- By:
- Publication type:
- Article
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 225, doi. 10.1007/s10048-013-0375-8
- By:
- Publication type:
- Article
Anomalous anastomosis between the external carotid artery and vertebrobasilar artery via the hypoglossal canal: a case report and review of literature.
- Published in:
- Surgical & Radiologic Anatomy, 2019, v. 41, n. 7, p. 849, doi. 10.1007/s00276-019-02205-y
- By:
- Publication type:
- Article
17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 5, p. 898, doi. 10.1093/hmg/ddn419
- By:
- Publication type:
- Article
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 11, p. 1183, doi. 10.1093/hmg/ddh131
- By:
- Publication type:
- Article
Heat shock factor-1 influences pathological lesion distribution of polyglutamine-induced neurodegeneration.
- Published in:
- Nature Communications, 2013, v. 4, n. 1, p. 1405, doi. 10.1038/ncomms2417
- By:
- Publication type:
- Article
FHIT suppresses inflammatory carcinogenic activity by inducing apoptosis in esphageal epithelial cells.
- Published in:
- Journal of Nucleic Acids Investigation, 2010, v. 1, n. 1-9, p. 31, doi. 10.4081/jnai.2010.1460
- By:
- Publication type:
- Article
Ablation of interleukin-19 improves motor function in a mouse model of amyotrophic lateral sclerosis.
- Published in:
- Molecular Brain, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13041-021-00785-8
- By:
- Publication type:
- Article
SGTA associates with intracellular aggregates in neurodegenerative diseases.
- Published in:
- Molecular Brain, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13041-021-00770-1
- By:
- Publication type:
- Article
CCR2 is localized in microglia and neurons, as well as infiltrating monocytes, in the lumbar spinal cord of ALS mice.
- Published in:
- Molecular Brain, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13041-020-00607-3
- By:
- Publication type:
- Article
Right Coronary Artery with an Intramural and Interarterial Course as a Unique Cause of Myocardial Ischemia: The Unroofing Method Might Still Be the Best Solution.
- Published in:
- Internal Medicine, 2023, v. 62, n. 5, p. 745, doi. 10.2169/internalmedicine.0127-22
- By:
- Publication type:
- Article
Sensory Ataxic Guillain-Barré Syndrome with Dysgeusia after mRNA COVID-19 Vaccination.
- Published in:
- Internal Medicine, 2022, v. 61, n. 11, p. 1757, doi. 10.2169/internalmedicine.8967-21
- By:
- Publication type:
- Article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".
- Published in:
- 2020
- By:
- Publication type:
- letter
Disruption of Axonal Transport in Motor Neuron Diseases.
- Published in:
- International Journal of Molecular Sciences, 2012, v. 13, n. 1, p. 1225, doi. 10.3390/ijms13011225
- By:
- Publication type:
- Article
Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy.
- Published in:
- International Journal of Molecular Sciences, 2009, v. 10, n. 3, p. 1000, doi. 10.3390/ijms10031000
- By:
- Publication type:
- Article
A platinum agent resistance gene, POLB, is a prognostic indicator in colorectal cancer.
- Published in:
- Journal of Surgical Oncology, 2009, v. 100, n. 3, p. 261, doi. 10.1002/jso.21275
- By:
- Publication type:
- Article
Clinical significance of low expression of Prostasin mRNA in human gastric cancer.
- Published in:
- Journal of Surgical Oncology, 2008, v. 98, n. 7, p. 559, doi. 10.1002/jso.21158
- By:
- Publication type:
- Article
Tuft-shaped astrocytes in Lewy body disease.
- Published in:
- Acta Neuropathologica, 2005, v. 109, n. 4, p. 373, doi. 10.1007/s00401-004-0967-3
- By:
- Publication type:
- Article
A Case of McLeod Syndrome with A Novel XK Missense Mutation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study