Found: 44
Select item for more details and to access through your institution.
A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia.
- Published in:
- Annals of Neurology, 2011, v. 70, n. 3, p. 486, doi. 10.1002/ana.22498
- By:
- Publication type:
- Article
Early dynamics of chronic myeloid leukemia on nilotinib predicts deep molecular response.
- Published in:
- NPJ Systems Biology & Applications, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41540-022-00248-3
- By:
- Publication type:
- Article
Distinct modes of endocytotic presynaptic membrane and protein uptake at the calyx of Held terminal of rats and mice.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.14643
- By:
- Publication type:
- Article
Outcome of aneurysmal subarachnoid haemorrhage in patients on maintenance haemodialysis.
- Published in:
- Nephrology, 2000, v. 5, n. 1/2, p. 51, doi. 10.1046/j.1440-1797.2000.00511.x
- By:
- 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
- By:
- Publication type:
- Article
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 96, doi. 10.1002/acn3.51936
- By:
- Publication type:
- Article
Novel de novo POLR3B mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 5, p. 747, doi. 10.1002/acn3.51555
- By:
- Publication type:
- Article
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.
- Published in:
- 2011
- By:
- Publication type:
- Report
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
- Published in:
- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071546
- By:
- Publication type:
- Article
The Current State of Charcot–Marie–Tooth Disease Treatment.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1391, doi. 10.3390/genes14071391
- By:
- Publication type:
- Article
Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 7, p. 377, doi. 10.1038/jhg.2009.44
- By:
- Publication type:
- Article
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 4, p. 362, doi. 10.1007/s10038-007-0124-7
- By:
- Publication type:
- Article
Transsynaptic modulation of presynaptic short-term plasticity in hippocampal mossy fiber synapses.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23153-5
- By:
- Publication type:
- Article
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case.
- Published in:
- Psychiatry & Clinical Neurosciences, 2011, v. 65, n. 1, p. 105, doi. 10.1111/j.1440-1819.2010.02169.x
- By:
- Publication type:
- Article
Developmental changes in Ca<sup>2+</sup> channel subtypes regulating endocytosis at the calyx of Held.
- Published in:
- Journal of Physiology, 2014, v. 592, n. 16, p. 3495, doi. 10.1113/jphysiol.2014.273243
- By:
- Publication type:
- Article
Curcumin facilitates a transitory cellular stress response in Trembler-J mice.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4698, doi. 10.1093/hmg/ddt318
- By:
- Publication type:
- Article
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Adipose Mitochondrial Biogenesis Is Suppressed in db/db and High-Fat Diet-Fed Mice and Improved by Rosiglitazone.
- Published in:
- Diabetes, 2007, v. 56, n. 7, p. 1751, doi. 10.2337/db06-1135
- By:
- Publication type:
- Article
Cobalt-Catalyzed Formal [4+2] Cycloaddition of α,α′-Dichloro- ortho-Xylenes with Alkynes.
- Published in:
- Angewandte Chemie, 2014, v. 126, n. 42, p. 11507, doi. 10.1002/ange.201406807
- By:
- Publication type:
- Article
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 125, doi. 10.1111/jns.12369
- By:
- Publication type:
- Article
Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
- Published in:
- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 40, doi. 10.1111/jns.12252
- By:
- Publication type:
- Article
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
- Published in:
- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 191, doi. 10.1111/jns.12228
- By:
- Publication type:
- Article
Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs.
- Published in:
- Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 311, doi. 10.1111/jns.12102
- By:
- Publication type:
- Article
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01847-3
- By:
- Publication type:
- Article
Subcellular patch-clamp techniques for single-bouton stimulation and simultaneous pre- and postsynaptic recording at cortical synapses.
- Published in:
- Nature Protocols, 2021, v. 16, n. 6, p. 2947, doi. 10.1038/s41596-021-00526-0
- By:
- Publication type:
- 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.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 1, p. 419, doi. 10.1007/s00415-023-11998-3
- By:
- Publication type:
- Article
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4129, doi. 10.1007/s00415-022-11026-w
- By:
- Publication type:
- Article
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 11, p. 1998, doi. 10.1007/s00415-011-6056-3
- By:
- Publication type:
- Article
Synthesis, Properties, and π-Dimer Formation of Oligothiophenes Partially Bearing Orthogonally Fused Fluorene Units.
- Published in:
- Chemistry - A European Journal, 2015, v. 21, n. 46, p. 16688, doi. 10.1002/chem.201502606
- By:
- Publication type:
- Article
Expression profiling of Peroxisome proliferator-activated receptor-delta (PPAR-delta) in mouse tissues using tissue microarray.
- Published in:
- Histochemistry & Cell Biology, 2007, v. 127, n. 5, p. 485, doi. 10.1007/s00418-007-0279-5
- By:
- Publication type:
- Article
Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.
- Published in:
- Cerebellum, 2022, v. 21, n. 5, p. 851, doi. 10.1007/s12311-021-01323-x
- By:
- Publication type:
- Article
Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01847-3
- By:
- 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
- Published in:
- Pathology International, 2007, v. 57, n. 6, p. 369, doi. 10.1111/j.1440-1827.2007.02109.x
- By:
- Publication type:
- Article
Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.952493
- By:
- 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
- By:
- Publication type:
- Article
Stenotic changes of the posterior cerebral artery are a major contributing factor for cerebral infarction in moyamoya disease.
- Published in:
- Surgical Neurology International, 2018, p. 1, doi. 10.4103/sni.sni_18_18
- By:
- Publication type:
- Article
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 149, doi. 10.1007/s10048-024-00746-y
- By:
- Publication type:
- Article
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 359, doi. 10.1007/s10048-012-0338-5
- By:
- Publication type:
- Article
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 175, doi. 10.1007/s10048-006-0046-0
- By:
- Publication type:
- Article
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.
- Published in:
- Neurogenetics, 2004, v. 5, n. 4, p. 215, doi. 10.1007/s10048-004-0194-z
- By:
- Publication type:
- Article
IgA multiple myeloma coexistent with atypical adult T-cell leukemia.
- Published in:
- European Journal of Haematology, 1987, v. 38, n. 5, p. 410, doi. 10.1111/j.1600-0609.1987.tb01437.x
- By:
- Publication type:
- Article
Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 359, doi. 10.1111/cge.13881
- By:
- Publication type:
- Article