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Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis.
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- Human Genetics, 2000, v. 107, n. 5, p. 452, doi. 10.1007/s004390000400
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- Publication type:
- Article
Pathological observations of a long spinal cord lesion in a patient with multiple sclerosis.
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- Neuropathology, 2022, v. 42, n. 3, p. 212, doi. 10.1111/neup.12800
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- Publication type:
- Article
Gene Expression Profiling toward Understanding of ALS Pathogenesis.
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- Annals of the New York Academy of Sciences, 2006, v. 1086, n. 1, p. 1, doi. 10.1196/annals.1377.011
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- Publication type:
- Article
Recurring Weakness in Rhabdomyolysis Following Pfizer–BioNTech Coronavirus Disease 2019 mRNA Vaccination.
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- Vaccines, 2022, v. 10, n. 6, p. N.PAG, doi. 10.3390/vaccines10060935
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- Publication type:
- Article
Sodium butyrate ameliorates phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy.
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- Human Molecular Genetics, 2004, v. 13, n. 11, p. 1183, doi. 10.1093/hmg/ddh131
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- Publication type:
- Article
Motor Improvement-Related Regional Cerebral Blood Flow Changes in Parkinson's Disease in Response to Antiparkinsonian Drugs.
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- Parkinson's Disease (20420080), 2019, p. 1, doi. 10.1155/2019/7503230
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- Publication type:
- Article
Unveiling synapse pathology in spinal bulbar muscular atrophy by genome-wide transcriptome analysis of purified motor neurons derived from disease specific iPSCs.
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- Molecular Brain, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13041-020-0561-1
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- Article
Antiparkinsonian drugs as potent contributors to nocturnal sleep in patients with Parkinson's disease.
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- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0255274
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- Publication type:
- Article
Rapid, efficient, and simple motor neuron differentiation from human pluripotent stem cells.
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- Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0172-4
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- Publication type:
- Article
Expression of Fas antigen is not associated with apoptosis in human myopathies.
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- 1997
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- Publication type:
- journal article
X-Linked recessive bulbospinal neuronopathy: Clinical phenotypes and cag repeat size in androgen receptor gene.
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- Muscle & Nerve, 1995, v. 18, n. 12, p. 1378, doi. 10.1002/mus.880181206
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- Publication type:
- Article
Primary sensory neurons in x-linked recessive bulbospinal neuronopathy: Histopathology and androgen receptor gene expression.
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- Muscle & Nerve, 1995, v. 18, n. 3, p. 301, doi. 10.1002/mus.880180306
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- Publication type:
- Article
Human peripheral nerve sheath neoplasm: Expression of Schwann cell-related markers and their relation to malignant transformation.
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- Muscle & Nerve, 1991, v. 14, n. 9, p. 812, doi. 10.1002/mus.880140903
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- Publication type:
- Article
Dorfin prevents cell death by reducing mitochondrial localizing mutant superoxide dismutase 1 in a neuronal cell model of familial amyotrophic lateral sclerosis.
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- Journal of Neurochemistry, 2004, v. 89, n. 1, p. 64, doi. 10.1046/j.1471-4159.2003.02289.x
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- Publication type:
- Article
Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis.
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- Journal of Neurochemistry, 2002, v. 80, n. 1, p. 158, doi. 10.1046/j.0022-3042.2001.00683.x
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- Publication type:
- Article
Laminin A, B1, and B2 Chain Gene Expression in Transected and Regenerating Nerves: Regulation by Axonal Signals.
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- Journal of Neurochemistry, 1993, v. 60, n. 2, p. 543, doi. 10.1111/j.1471-4159.1993.tb03183.x
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- Publication type:
- Article
CHIP Overexpression Reduces Mutant Androgen Receptor Protein and Ameliorates Phenotypes of the Spinal and Bulbar Muscular Atrophy Transgenic Mouse Model.
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- Journal of Neuroscience, 2007, v. 27, n. 19, p. 5115, doi. 10.1523/JNEUROSCI.1242-07.2007
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- Publication type:
- Article
Reversible Disruption of Dynactin 1-Mediated Retrograde Axonal Transport in Polyglutamine-Induced Motor Neuron Degeneration.
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- Journal of Neuroscience, 2006, v. 26, n. 47, p. 25, doi. 10.1523/JNEUROSCI.3032-06.2006
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- Publication type:
- Article
Heat Shock Protein 70 Chaperone Overexpression Ameliorates Phenotypes of the Spinal and Bulbar Muscular Atrophy Transgenic Mouse Model by Reducing Nuclear-Localized Mutant Androgen Receptor Protein.
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- Journal of Neuroscience, 2003, v. 23, n. 6, p. 2203, doi. 10.1523/JNEUROSCI.23-06-02203.2003
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- Publication type:
- Article
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
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- Human Mutation, 2000, v. 16, n. 2, p. 177, doi. 10.1002/1098-1004(200008)16:2<177::AID-HUMU14>3.0.CO;2-5
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- Publication type:
- Article
Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-34445-9
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- Publication type:
- Article
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients.
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- Brain: A Journal of Neurology, 2005, v. 128, n. 3, p. 659, doi. 10.1093/brain/awh381
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- Publication type:
- Article
Progression and prognosis in multiple system atrophy.
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- Brain: A Journal of Neurology, 2002, v. 125, n. 5, p. 1070, doi. 10.1093/brain/awf117
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- Publication type:
- Article
17-AAG, an Hsp90 inhibitor, ameliorates polyglutamine-mediated motor neuron degeneration.
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- Nature Medicine, 2005, v. 11, n. 10, p. 1088, doi. 10.1038/nm1298
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- Publication type:
- Article
Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy.
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- Nature Medicine, 2003, v. 9, n. 6, p. 768, doi. 10.1038/nm878
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- Publication type:
- Article
Multiple cerebral infarctions due to calcified amorphous tumor growing rapidly from an antecedent infection and decreasing rapidly by detachment of fibrin and antithrombotic drugs: a case report.
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- 2022
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- Publication type:
- Case Study
Modulation of Hsp90 function in neurodegenerative disorders: a molecular-targeted therapy against disease-causing protein.
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- Journal of Molecular Medicine, 2006, v. 84, n. 8, p. 635, doi. 10.1007/s00109-006-0066-0
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- Publication type:
- Article
The role of lymphotoxin in pathogenesis of polymyositis.
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- Acta Neuropathologica, 2000, v. 100, n. 5, p. 521, doi. 10.1007/s004010000207
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- Publication type:
- Article
Advanced glycation end products co-localized with astrocytes and microglial cells in Alzheimer’s disease brain.
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- Acta Neuropathologica, 1998, v. 95, n. 6, p. 555, doi. 10.1007/s004010050839
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- Publication type:
- Article
An Exploratory Trial of EPI-589 in Amyotrophic Lateral Sclerosis (EPIC-ALS): Protocol for a Multicenter, Open-Labeled, 24-Week, Single-Group Study.
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- JMIR Research Protocols, 2023, v. 12, n. 1, p. 819, doi. 10.2196/42032
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- Publication type:
- Article
Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.
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- Clinical Genetics, 2000, v. 58, n. 1, p. 69, doi. 10.1034/j.1399-0004.2000.580112.x
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- Publication type:
- Article
Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6.
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- Clinical Genetics, 1998, v. 53, n. 1, p. 13, doi. 10.1111/j.1399-0004.1998.tb02575.x
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- Publication type:
- Article
Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle.
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- 2000
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- Publication type:
- journal article
Expression of HLA-DR and its enhancing molecules in muscle fibers in polymyositis.
- Published in:
- 2000
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- Publication type:
- journal article
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: A pathogenic marker.
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- Annals of Neurology, 2006, v. 59, n. 3, p. 520
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- Publication type:
- Article
Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis.
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- Annals of Neurology, 2005, v. 57, n. 2, p. 236
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- Publication type:
- Article
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy.
- Published in:
- Annals of Neurology, 1998, v. 44, n. 2, p. 249, doi. 10.1002/ana.410440216
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- Publication type:
- Article
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem cag repeat in androgen receptor gene.
- Published in:
- Annals of Neurology, 1992, v. 32, n. 5, p. 707, doi. 10.1002/ana.410320517
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- Publication type:
- Article
Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 10, p. 1039, doi. 10.1093/hmg/10.10.1039
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- Publication type:
- Article
Founder Effect in Spinal and Bulbar Muscular Atrophy (SBMA).
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- Human Molecular Genetics, 1996, v. 5, n. 9, p. 1253, doi. 10.1093/hmg/5.9.1253
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- Article
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.
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- Human Molecular Genetics, 1995, v. 4, n. 5, p. 807
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- Publication type:
- Article
A 47-Year-Old Japanese Woman with Symptoms of Increased Salty and Reduced Sweet Taste Perception Preceding a Diagnosis of Thymoma-Associated Myasthenia Gravis.
- Published in:
- 2022
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- Publication type:
- Case Study
Differentially expressed genes in sporadic amyotrophic lateral sclerosis spinal cords – screening by molecular indexing and subsequent cDNA microarray analysis
- Published in:
- FEBS Letters, 2002, v. 531, n. 2, p. 354, doi. 10.1016/S0014-5793(02)03546-9
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- Publication type:
- Article