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Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
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- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01847-3
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- Article
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
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- Neurogenetics, 2024, v. 25, n. 2, p. 149, doi. 10.1007/s10048-024-00746-y
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- Article
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 96, doi. 10.1002/acn3.51936
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- Article
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
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- Journal of Neurology, 2024, v. 271, n. 1, p. 419, doi. 10.1007/s00415-023-11998-3
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- Article
The Current State of Charcot–Marie–Tooth Disease Treatment.
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- Genes, 2023, v. 14, n. 7, p. 1391, doi. 10.3390/genes14071391
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- Article
Dysmegakaryopoiesis and Transient Mild Increase in Bone Marrow Blasts in Patients With Aplastic Anemia Treated With Eltrombopag May Be Signs of Hematologic Improvement and Not Portend Clonal Evolution.
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- 2022
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- Publication type:
- journal article
Early dynamics of chronic myeloid leukemia on nilotinib predicts deep molecular response.
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- NPJ Systems Biology & Applications, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41540-022-00248-3
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- Article
Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.
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- Cerebellum, 2022, v. 21, n. 5, p. 851, doi. 10.1007/s12311-021-01323-x
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- Article
Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.952493
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- Article
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
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- Journal of Neurology, 2022, v. 269, n. 8, p. 4129, doi. 10.1007/s00415-022-11026-w
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- Article
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
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- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071546
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- Article
Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan.
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- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 5, p. 747, doi. 10.1002/acn3.51555
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- Publication type:
- Article
Subcellular patch-clamp techniques for single-bouton stimulation and simultaneous pre- and postsynaptic recording at cortical synapses.
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- Nature Protocols, 2021, v. 16, n. 6, p. 2947, doi. 10.1038/s41596-021-00526-0
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- Publication type:
- Article
Transsynaptic modulation of presynaptic short-term plasticity in hippocampal mossy fiber synapses.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23153-5
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- Article
Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan.
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- Clinical Genetics, 2021, v. 99, n. 3, p. 359, doi. 10.1111/cge.13881
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- Article
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 125, doi. 10.1111/jns.12369
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- Article
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
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- 2018
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- Publication type:
- journal article
Stenotic changes of the posterior cerebral artery are a major contributing factor for cerebral infarction in moyamoya disease.
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- Surgical Neurology International, 2018, p. 1, doi. 10.4103/sni.sni_18_18
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- Publication type:
- Article
Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 40, doi. 10.1111/jns.12252
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- Publication type:
- Article
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
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- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 191, doi. 10.1111/jns.12228
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- Publication type:
- Article
Distinct modes of endocytotic presynaptic membrane and protein uptake at the calyx of Held terminal of rats and mice.
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- eLife, 2016, p. 1, doi. 10.7554/eLife.14643
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- Publication type:
- Article
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
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- 2016
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- Publication type:
- journal article
Synthesis, Properties, and π-Dimer Formation of Oligothiophenes Partially Bearing Orthogonally Fused Fluorene Units.
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- Chemistry - A European Journal, 2015, v. 21, n. 46, p. 16688, doi. 10.1002/chem.201502606
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- Publication type:
- Article
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
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- Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 311, doi. 10.1111/jns.12102
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- Publication type:
- Article
Cobalt-Catalyzed Formal [4+2] Cycloaddition of α,α′-Dichloro- ortho-Xylenes with Alkynes.
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- Angewandte Chemie, 2014, v. 126, n. 42, p. 11507, doi. 10.1002/ange.201406807
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- Publication type:
- Article
Cobalt-Catalyzed Formal [4+2] Cycloaddition of α,α′-Dichloro- ortho-Xylenes with Alkynes.
- Published in:
- Angewandte Chemie International Edition, 2014, v. 53, n. 42, p. 11325, doi. 10.1002/anie.201406807
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- Publication type:
- Article
Developmental changes in Ca<sup>2+</sup> channel subtypes regulating endocytosis at the calyx of Held.
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- Journal of Physiology, 2014, v. 592, n. 16, p. 3495, doi. 10.1113/jphysiol.2014.273243
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- Publication type:
- Article
Curcumin facilitates a transitory cellular stress response in Trembler-J mice.
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- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4698, doi. 10.1093/hmg/ddt318
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- Publication type:
- Article
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
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- Neurogenetics, 2012, v. 13, n. 4, p. 359, doi. 10.1007/s10048-012-0338-5
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- Article
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
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- Journal of Neurology, 2011, v. 258, n. 11, p. 1998, doi. 10.1007/s00415-011-6056-3
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- Publication type:
- Article
A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia.
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- Annals of Neurology, 2011, v. 70, n. 3, p. 486, doi. 10.1002/ana.22498
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- Publication type:
- Article
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.
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- 2011
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- Publication type:
- Report
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case.
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- Psychiatry & Clinical Neurosciences, 2011, v. 65, n. 1, p. 105, doi. 10.1111/j.1440-1819.2010.02169.x
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- Publication type:
- Article
Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.
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- Journal of Human Genetics, 2009, v. 54, n. 7, p. 377, doi. 10.1038/jhg.2009.44
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- Publication type:
- Article
Adipose Mitochondrial Biogenesis Is Suppressed in db/db and High-Fat Diet-Fed Mice and Improved by Rosiglitazone.
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- Diabetes, 2007, v. 56, n. 7, p. 1751, doi. 10.2337/db06-1135
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- Publication type:
- Article
Quantitative image analysis in adipose tissue using an automated image analysis system: Differential effects of peroxisome proliferator-activated receptor-α and -γ agonist on white and brown adipose tissue morphology in AKR obese and db/db diabetic mice
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- Pathology International, 2007, v. 57, n. 6, p. 369, doi. 10.1111/j.1440-1827.2007.02109.x
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- Publication type:
- Article
Expression profiling of Peroxisome proliferator-activated receptor-delta (PPAR-delta) in mouse tissues using tissue microarray.
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- Histochemistry & Cell Biology, 2007, v. 127, n. 5, p. 485, doi. 10.1007/s00418-007-0279-5
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- Publication type:
- Article
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 362, doi. 10.1007/s10038-007-0124-7
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- Publication type:
- Article
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
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- Neurogenetics, 2006, v. 7, n. 3, p. 175, doi. 10.1007/s10048-006-0046-0
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- Publication type:
- Article
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
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- Neurogenetics, 2004, v. 5, n. 4, p. 215, doi. 10.1007/s10048-004-0194-z
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- Publication type:
- Article
Outcome of aneurysmal subarachnoid haemorrhage in patients on maintenance haemodialysis.
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- Nephrology, 2000, v. 5, n. 1/2, p. 51, doi. 10.1046/j.1440-1797.2000.00511.x
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- Publication type:
- Article
Microsomal Carbonyl Reductase Responsible for Reduction of 4-Phenyl-3-buten-2-one in Rats.
- Published in:
- IUBMB Life, 1999, v. 48, n. 5, p. 543, doi. 10.1080/152165499306667
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- Publication type:
- Article
IgA multiple myeloma coexistent with atypical adult T-cell leukemia.
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- European Journal of Haematology, 1987, v. 38, n. 5, p. 410, doi. 10.1111/j.1600-0609.1987.tb01437.x
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- Publication type:
- Article