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Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Selective ipsilateral neuromuscular involvement in a case of facial and somatic hemiatrophy.
- Published in:
- 1997
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- Publication type:
- journal article
Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.
- Published in:
- 2017
- By:
- Publication type:
- case study
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
- Published in:
- 2007
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- Publication type:
- journal article
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
- Published in:
- 2006
- By:
- Publication type:
- journal article
The spectrum of mutations for CADASIL diagnosis.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Dose-Dense Temozolomide in Patients with MGMT-Silenced Chemorefractory Colorectal Cancer.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Primary familial brain calcification: Genetic analysis and clinical spectrum.
- Published in:
- Movement Disorders, 2014, v. 29, n. 13, p. 1691, doi. 10.1002/mds.26053
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- Publication type:
- Article
Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study.
- Published in:
- Movement Disorders, 2008, v. 23, n. 6, p. 899, doi. 10.1002/mds.21982
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- Publication type:
- Article
Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.
- Published in:
- Movement Disorders, 2003, v. 18, n. 11, p. 1405, doi. 10.1002/mds.10541
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- Publication type:
- Article
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene.
- Published in:
- Movement Disorders, 2000, v. 15, n. 6, p. 1282, doi. 10.1002/1531-8257(200011)15:6<1282::AID-MDS1042>3.0.CO;2-2
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- Publication type:
- Article
On the commensurability of hyperbolic Coxeter groups.
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- Manuscripta Mathematica, 2024, v. 173, n. 1/2, p. 203, doi. 10.1007/s00229-022-01451-6
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- Publication type:
- Article
Combination Treatment versus LHRH Alone in Advanced Prostatic Cancer.
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- Urologia Internationalis, 1996, v. 56, n. S1, p. 13, doi. 10.1159/000282863
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- Publication type:
- Article
CAUSAS DA REPETÊNCIA ESCOLAR: CONTRIBUIÇÕES DE PÓRCIA GUIMARÃES ALVES AO PENSAMENTO EDUCACIONAL BRASILEIRO.
- Published in:
- Temáticas, 2022, v. 30, n. 59, p. 114, doi. 10.20396/tematicas.v30i59.16088
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- Publication type:
- Article
Cognitive decline in diabetic mice predisposed to Alzheimer's disease is greater than in wild type.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 6, p. 1, doi. 10.26508/lsa.202201789
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- Publication type:
- Article
Increased exosome secretion in neurons aging in vitro pby NPC1-mediated endosomal cholesterol buildup.
- Published in:
- Life Science Alliance, 2021, v. 4, n. 8, p. 1, doi. 10.26508/lsa.202101055
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- Publication type:
- Article
HEGEL, FILÓSOFO DE LA GUERRA, Y LA VIOLENCIA CONTEMPORÁNEA.
- Published in:
- Anuario Filosófico, 2007, v. 40, n. 1, p. 69
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- Publication type:
- Article
Alterations of calcium metabolism and of parathyroid function in primary aldosteronism, and their reversal by spironolactone or by surgical removal of aldosterone-producing adenomas.
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- American Journal of Hypertension, 1995, v. 8, n. 9, p. 884, doi. 10.1016/0895-7061(95)00182-O
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- Publication type:
- Article
Effectiveness and cost-effectiveness of integrated care models for elderly, complex patients: A narrative review. Don't we need a value-based approach?
- Published in:
- International Journal of Care Coordination, 2018, v. 21, n. 4, p. 120, doi. 10.1177/2053434518817019
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- Publication type:
- Article
Glial β-Oxidation regulates Drosophila Energy Metabolism.
- Published in:
- Scientific Reports, 2015, p. 7805, doi. 10.1038/srep07805
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- Publication type:
- Article
Veterinary Regenerative Medicine for Musculoskeletal Disorders: Can Mesenchymal Stem/Stromal Cells and Their Secretome Be the New Frontier?
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 6, p. 1453, doi. 10.3390/cells9061453
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- Publication type:
- Article
Stressed target cancer cells drive nongenetic reprogramming of CAR T cells and solid tumor microenvironment.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41282-x
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- Publication type:
- Article
Macrophage and neutrophil heterogeneity at single-cell spatial resolution in human inflammatory bowel disease.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40156-6
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- Publication type:
- Article
First cytogenetic characterization of the Amazon Catfish Leiarius marmoratus (Gill, 1870) and its hybrid with Pseudoplatystoma reticulatum (Eigenmann & Eigenmann, 1889).
- Published in:
- Caryologia, 2021, v. 74, n. 1, p. 127, doi. 10.36253/caryologia-1149
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- Publication type:
- Article
Nature-Based Solutions: Thermal Comfort Improvement and Psychological Wellbeing, a Case Study in Genoa, Italy.
- Published in:
- Sustainability (2071-1050), 2021, v. 13, n. 21, p. 11638, doi. 10.3390/su132111638
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- Publication type:
- Article
Corporate Environmental Management for the Textile Industry: Toward an Empirical Typology.
- Published in:
- Sustainability (2071-1050), 2019, v. 11, n. 23, p. 6688, doi. 10.3390/su11236688
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- Publication type:
- Article
Um ano depois da Amoris Laetitia.
- Published in:
- Revista Portuguesa de Filosofia, 2017, v. 73, n. 2, p. 867, doi. 10.17990/RPF/2017_73_2_0867
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- Publication type:
- Article
Leber's optic atrophy: VEP and BAEP changes in 16 asymptomatic subjects.
- Published in:
- Acta Neurologica Scandinavica, 1991, v. 84, n. 4, p. 366, doi. 10.1111/j.1600-0404.1991.tb04970.x
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- Publication type:
- Article
BAEP changes in Leber's hereditary optic atrophy: further confirmation of multisystem involvement.
- Published in:
- Acta Neurologica Scandinavica, 1990, v. 81, n. 4, p. 349, doi. 10.1111/j.1600-0404.1990.tb01569.x
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- Publication type:
- Article
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils.
- Published in:
- European Neurology, 2006, v. 56, n. 3, p. 172, doi. 10.1159/000096182
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- Publication type:
- Article
Leber Hereditary Optic Neuropathy in 2 of 4 Siblings with 11778 mtDNA Mutation: Clinical Variability or Effect of Toxic Environmental Exposure?
- Published in:
- European Neurology, 2005, v. 53, n. 1, p. 32, doi. 10.1159/000083927
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- Publication type:
- Article
Spinocerebellar Ataxia Type 2 (Sca2) Associated with Retinal Pigmentary Degeneration.
- Published in:
- European Neurology, 2002, v. 47, n. 2, p. 128, doi. 10.1159/000047968
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- Publication type:
- Article
Cytokine Production from Peripheral Mononuclear Cells in 2 Patients Affected by Adrenomyeloneuropathy.
- Published in:
- European Neurology, 2001, v. 45, n. 3, p. 192, doi. 10.1159/000052126
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- Publication type:
- Article
Neurological Involvement in Werner’s Syndrome: Clinical and Biopsy Study of a Familial Case.
- Published in:
- European Neurology, 2000, v. 44, n. 3, p. 187, doi. 10.1159/000008234
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- Publication type:
- Article
Cerebrotendinous Xanthomatous as a Multisystem Disease Mimicking Premature Ageing.
- Published in:
- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 371, doi. 10.1159/000112187
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- Publication type:
- Article
Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
- Published in:
- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0190878
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- Publication type:
- Article
Safety and antitumor activity of the anti–PD-1 antibody pembrolizumab in patients with advanced colorectal carcinoma.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189848
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- Publication type:
- Article
Reaching across the aisle to block reforms.
- Published in:
- Economic Theory, 2021, v. 72, n. 2, p. 533, doi. 10.1007/s00199-020-01298-6
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- Publication type:
- Article
Checking the site categorization criteria and amplification factors of the 2021 draft of Eurocode 8 Part 1–1.
- Published in:
- Bulletin of Earthquake Engineering, 2021, v. 19, n. 11, p. 4199, doi. 10.1007/s10518-021-01118-9
- By:
- Publication type:
- Article
Regulation of tyrosine kinase B activity by the Cyp46/cholesterol loss pathway in mature hippocampal neurons: relevance for neuronal survival under stress and in aging.
- Published in:
- Journal of Neurochemistry, 2011, v. 116, n. 5, p. 747, doi. 10.1111/j.1471-4159.2010.07079.x
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- Publication type:
- Article
Técnica colangioscópica para tratamento percutâneo de litíase biliar intra-hepática.
- Published in:
- Radiologia Brasileira, 2019, v. 52, n. 5, p. 314, doi. 10.1590/0100-3984.2018.0057
- By:
- Publication type:
- Article
Percutaneous cholangioscopy for the treatment of choledocholithiasis.
- Published in:
- Radiologia Brasileira, 2019, v. 52, n. 5, p. 314, doi. 10.1590/0100-3984.2018.0057
- By:
- Publication type:
- Article
Anterior segment optical coherence tomography in pupillary seclusion diagnosis and follow-up.
- Published in:
- 2020
- By:
- Publication type:
- Letter to the Editor
Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Cusp Density and Commensurability of Non-arithmetic Hyperbolic Coxeter Orbifolds.
- Published in:
- Discrete & Computational Geometry, 2023, v. 69, n. 3, p. 873, doi. 10.1007/s00454-022-00455-z
- By:
- Publication type:
- Article
Design and Characterization of Maltoheptaose- b -Polystyrene Nanoparticles, as a Potential New Nanocarrier for Oral Delivery of Tamoxifen.
- Published in:
- Molecules, 2021, v. 26, n. 21, p. 6507, doi. 10.3390/molecules26216507
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- Publication type:
- Article
Centrosome localization determines neuronal polarity.
- Published in:
- Nature, 2005, v. 436, n. 7051, p. 704, doi. 10.1038/nature03811
- By:
- Publication type:
- Article
Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study.
- Published in:
- 2016
- By:
- Publication type:
- journal article