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Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
- Published in:
- 2017
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- Publication type:
- journal article
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
- Published in:
- 2017
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- Publication type:
- journal article
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.
- Published in:
- 2017
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- 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
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- Publication type:
- journal article
The spectrum of mutations for CADASIL diagnosis.
- Published in:
- 2005
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- 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
Dose-Dense Temozolomide in Patients with MGMT-Silenced Chemorefractory Colorectal Cancer.
- Published in:
- 2016
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- Publication type:
- journal article
Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
- Published in:
- 2000
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- Publication type:
- journal article
DOS AÇOUGUES E FABRIQUETAS1 AOS FRIGORÍFICOS: EXPERIÊNCIAS DOS TRABALHADORES COM O ABATE E A DESOSSA DA CARNE NO OESTE PARANAENSE (1960-2015).
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- Revista Eletrônica História em Reflexão, 2024, v. 19, n. 37, p. 79, doi. 10.30612/rehr.v19i37.17686
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- Publication type:
- Article
Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.
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- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 7, p. 696, doi. 10.1023/A:1012981019336
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- Publication type:
- Article
Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment.
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- Calcified Tissue International, 2013, v. 92, n. 3, p. 282, doi. 10.1007/s00223-012-9677-3
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- Publication type:
- Article
Double Products and Hypersymplectic Structures on ℝ<sup>4</sup><sup> n </sup>.
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- Communications in Mathematical Physics, 2006, v. 262, n. 1, p. 1, doi. 10.1007/s00220-005-1472-9
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- Publication type:
- Article
Plasma Levels of Asymmetric Dimethylarginine in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarct and Leukoencephalopathy.
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- Cerebrovascular Diseases, 2008, v. 26, n. 6, p. 636, doi. 10.1159/000166840
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- Publication type:
- Article
Report on G4‐Med, a Geant4 benchmarking system for medical physics applications developed by the Geant4 Medical Simulation Benchmarking Group.
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- Medical Physics, 2021, v. 48, n. 1, p. 19, doi. 10.1002/mp.14226
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- Publication type:
- Article
Macrolide resistance in group A streptococci.
- Published in:
- 2000
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- Publication type:
- journal article
ENGLISH FOR ACADEMIC PURPOSES AND E-LEARNING: POINTS OF CONSISTENCY AND ISSUES.
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- Revista EntreLínguas, 2020, v. 6, n. 2, p. 340, doi. 10.29051/el.v6i2.13499
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- Publication type:
- Article
Educational Gradients in Parents' Child-Care Time Across Countries, 1965-2012.
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- Journal of Marriage & Family, 2016, v. 78, n. 4, p. 1083, doi. 10.1111/jomf.12305
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- Article
Men’s Employment Hours and Time on Domestic Chores in European Countries.
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- Journal of Family Issues, 2014, v. 35, n. 8, p. 1023, doi. 10.1177/0192513X14522245
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- Publication type:
- Article
Men’s Employment Hours and Time on Domestic Chores in European Countries.
- Published in:
- 2014
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- Publication type:
- Journal Article
The International Bathymetric Chart of the Southern Ocean Version 2.
- Published in:
- Scientific Data, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41597-022-01366-7
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- Publication type:
- Article
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
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- Neurological Sciences, 2022, v. 43, n. 2, p. 1071, doi. 10.1007/s10072-021-05462-1
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- Publication type:
- Article
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
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- Neurological Sciences, 2020, v. 41, n. 12, p. 3653, doi. 10.1007/s10072-020-04422-5
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- Publication type:
- Article
Eye movement changes in autosomal dominant spinocerebellar ataxias.
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- Neurological Sciences, 2020, v. 41, n. 7, p. 1719, doi. 10.1007/s10072-020-04318-4
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- Publication type:
- Article
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies.
- Published in:
- 2020
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- Publication type:
- journal article
Brachial plexopathy due to breast cancer metastases: electrophysiological and imaging findings.
- Published in:
- 2018
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- Publication type:
- Case Study
Imaging of the thymus in myotonic dystrophy type 1.
- Published in:
- 2018
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- Publication type:
- journal article
Ataxia with oculomotor apraxia type 2: not always an easy diagnosis.
- Published in:
- 2015
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- Publication type:
- Letter
Primary familial brain calcification: update on molecular genetics.
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- Neurological Sciences, 2015, v. 36, n. 5, p. 787, doi. 10.1007/s10072-015-2110-8
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- Publication type:
- Article
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
- Published in:
- 2014
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- Publication type:
- Letter
Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.
- Published in:
- Neurological Sciences, 2014, v. 35, n. 8, p. 1287, doi. 10.1007/s10072-014-1707-7
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- Publication type:
- Article
Homozygosity and severity of phenotypic presentation in a CADASIL family.
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- Neurological Sciences, 2014, v. 35, n. 1, p. 91, doi. 10.1007/s10072-013-1580-9
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- Publication type:
- Article
Cerebellum and neuropsychiatric disorders: insights from ARSACS.
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- Neurological Sciences, 2014, v. 35, n. 1, p. 95, doi. 10.1007/s10072-013-1592-5
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- Publication type:
- Article
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.
- Published in:
- 2013
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- Publication type:
- Letter
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients.
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- Neurological Sciences, 2013, v. 34, n. 4, p. 553, doi. 10.1007/s10072-012-1174-y
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- Publication type:
- Article
Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
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- Neurological Sciences, 2013, v. 34, n. 1, p. 79, doi. 10.1007/s10072-012-0956-6
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- Publication type:
- Article
Myotonic dystrophy type 2 and autoimmune chronic gastritis: an incidental association?
- Published in:
- 2011
- By:
- Publication type:
- Letter
First report of an Iraqi Kurdish CADASIL patient.
- Published in:
- 2011
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- Publication type:
- Letter
A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
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- Neurological Sciences, 2010, v. 31, n. 4, p. 491, doi. 10.1007/s10072-010-0225-5
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- Publication type:
- Article
Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient.
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- Neurological Sciences, 2009, v. 30, n. 4, p. 329, doi. 10.1007/s10072-009-0092-0
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- Publication type:
- Article
Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view.
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- Neurological Sciences, 2009, v. 30, n. 3, p. 179, doi. 10.1007/s10072-009-0039-5
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- Publication type:
- Article
Typical pathological changes of CADASIL in the optic nerve.
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- Neurological Sciences, 2005, v. 26, n. 4, p. 271, doi. 10.1007/s10072-005-0470-1
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- Publication type:
- Article
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.
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- Neurological Sciences, 2005, v. 26, n. 3, p. 171, doi. 10.1007/s10072-005-0456-z
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- Publication type:
- Article
Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDH apheresis.
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- Neurological Sciences, 2004, v. 25, n. 4, p. 185, doi. 10.1007/s10072-004-0320-6
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- Publication type:
- Article
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
- Published in:
- 2004
- By:
- Publication type:
- journal article
Genetic leukoencephalopathies with unknown metabolic pathogenesis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Changes in organic carbon distribution with depth in agricultural soils in northern Belgium, 1960–2006.
- Published in:
- Global Change Biology, 2009, v. 15, n. 11, p. 2739, doi. 10.1111/j.1365-2486.2009.01855.x
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- Publication type:
- Article
Case Report: A playful digital-analogical rehabilitative intervention to enhance working memory capacity and executive functions in a pre-school child with autism.
- Published in:
- Frontiers in Psychiatry, 2023, p. 01, doi. 10.3389/fpsyt.2023.1205340
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- Publication type:
- Article
The immunogenicity of virus-derived 2A sequences in immunocompetent individuals.
- Published in:
- Gene Therapy, 2013, v. 20, n. 9, p. 958, doi. 10.1038/gt.2013.25
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- Publication type:
- Article
Exchange-induced spin polarization in a single magnetic molecule junction.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31909-w
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- Publication type:
- Article