Works by Perna, Alessia
Results: 38
Cardiac amyloidosis: diagnosis and treatment.
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- Outpatient Cardiology / Cardiologia Ambulatorial, 2023, v. 31, n. 4, p. 1
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- Article
Creutzfeldt-Jakob disease in a man surviving COVID-19: disentangling a casual or causal association by neuropathology.
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- Neurological Sciences, 2024, v. 45, n. 6, p. 2419, doi. 10.1007/s10072-024-07486-9
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- Article
Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2.
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- 2020
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- Letter
Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 1, p. 26, doi. 10.3390/brainsci13010026
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- Article
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 246, doi. 10.3390/brainsci11020246
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- Article
Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management.
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- Journal of Clinical Medicine, 2023, v. 12, n. 10, p. 3481, doi. 10.3390/jcm12103481
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- Article
Clarification on Uveal Melanoma Associated With Myotonic Dystrophy.
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- 2018
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- Publication type:
- Letter
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.
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- European Journal of Neurology, 2022, v. 29, n. 3, p. 843, doi. 10.1111/ene.15174
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- Article
Exploring the drilling behaviour of cold-sprayed hybrid metal-FRP structures: an experimental investigation.
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- International Journal of Advanced Manufacturing Technology, 2024, v. 135, n. 9/10, p. 4911, doi. 10.1007/s00170-024-14773-4
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- Article
Green electrochemical polishing of EBM Ti6Al4V samples with preliminary fatigue results.
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- International Journal of Advanced Manufacturing Technology, 2023, v. 126, n. 9/10, p. 4269, doi. 10.1007/s00170-023-11400-6
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- Article
Thoracic Aortic Dilation: Implications for Physical Activity and Sport Participation.
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- Diagnostics (2075-4418), 2022, v. 12, n. 6, p. 1392, doi. 10.3390/diagnostics12061392
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- Article
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors.
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- European Journal of Preventive Cardiology, 2021, v. 28, n. 10, p. 1134, doi. 10.1177/2047487320940863
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- Article
Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review.
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- Cardiogenetics, 2022, v. 12, n. 1, p. 112, doi. 10.3390/cardiogenetics12010012
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- Article
Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference.
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- Cardiogenetics, 2022, v. 12, n. 1, p. 102, doi. 10.3390/cardiogenetics12010010
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- Article
Case of postpartum Parsonage-Turner syndrome.
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- Muscle & Nerve, 2014, v. 49, n. 2, p. 294, doi. 10.1002/mus.24073
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- Article
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
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- Neurogenetics, 2020, v. 21, n. 4, p. 279, doi. 10.1007/s10048-020-00620-7
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- Article
A novel manufacturing route for integrated 3D-printed composites and cold-sprayed metallic layer.
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- Materials & Manufacturing Processes, 2022, v. 37, n. 5, p. 568, doi. 10.1080/10426914.2021.1942908
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- Article
Feasibility of steel powder deposition on composites through cold spray.
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- Materials & Manufacturing Processes, 2021, v. 36, n. 3, p. 281, doi. 10.1080/10426914.2020.1832693
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- Article
Cold spray process for the production of AlSi10Mg coatings on glass fibers reinforced polymers.
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- Materials & Manufacturing Processes, 2021, v. 36, n. 1, p. 106, doi. 10.1080/10426914.2020.1813895
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- Publication type:
- Article
Creutzfeldt–Jakob Disease Associated with E200K Mutation and SARS-CoV-2 Infection: Pure Coincidence or Neurodegenerative Acceleration?
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- Clinical & Translational Neuroscience, 2024, v. 8, n. 2, p. 16, doi. 10.3390/ctn8020016
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- Article
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 9108, doi. 10.3390/ijms24109108
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- Article
Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer.
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- British Journal of Neurosurgery, 2023, v. 37, n. 6, p. 1839, doi. 10.1080/02688697.2021.1940860
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- Article
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
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- Neuroepidemiology, 2022, v. 56, n. 3, p. 212, doi. 10.1159/000525159
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- Article
Investigating Fracture Behavior in Titanium Aluminides: Surface Roughness as an Indicator of Fracture Mechanisms in Ti-48Al-2Cr-2Nb Alloys.
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- Metals (2075-4701), 2025, v. 15, n. 1, p. 49, doi. 10.3390/met15010049
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- Article
Characterization of Cold-Spray Coatings on Fiber-Reinforced Polymers through Nanoindentation Tests.
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- Metals (2075-4701), 2021, v. 11, n. 2, p. 331, doi. 10.3390/met11020331
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- Article
High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00394
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- Article
Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00113
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- Article
Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1).
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- Journal of Neurology, 2022, v. 269, n. 9, p. 5085, doi. 10.1007/s00415-022-11165-0
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- Article
Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function.
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- eLife, 2021, p. 1
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- Article
Modeling of Strain Actuation on Relatively Soft Curved Beams by Piezoelectric Ceramics for De-Icing Systems.
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- Applied Sciences (2076-3417), 2023, v. 13, n. 16, p. 9104, doi. 10.3390/app13169104
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- Article
T cell response to N-formylated peptides in humans.
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- European Journal of Immunology, 2001, v. 31, n. 9, p. 2762, doi. 10.1002/1521-4141(200109)31:9<2762::AID-IMMU2762>3.0.CO;2-X
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- Article
Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study.
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- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.638810
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- Article
Differential Gene Expression in Late-Onset Friedreich Ataxia: A Comparative Transcriptomic Analysis Between Symptomatic and Asymptomatic Sisters.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 21, p. 11615, doi. 10.3390/ijms252111615
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- Article
Guillain-Barré syndrome in patients dying with COVID-19 in Italy: a retrospective study.
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- Annali dell'Istituto Superiore di Sanita, 2023, v. 59, n. 3, p. 194, doi. 10.4415/ANN_23_03_04
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- Article
Cold spray deposition of metallic coatings on polymers: a review.
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- Journal of Materials Science, 2022, v. 57, n. 1, p. 27, doi. 10.1007/s10853-021-06561-2
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- Article
Prognostic value of two‐dimensional strain in early ischemic heart disease: A 5‐year follow‐up study.
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- Echocardiography, 2022, v. 39, n. 6, p. 768, doi. 10.1111/echo.15360
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- Article
Understanding the Best Nutritional Management for Creutzfeldt–Jakob Disease Patients: A Comparison Between East Asian and Western Experiences.
- Published in:
- Life (2075-1729), 2024, v. 14, n. 11, p. 1496, doi. 10.3390/life14111496
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- Article
A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma.
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- Endocrine (1355008X), 2018, v. 62, n. 2, p. 492, doi. 10.1007/s12020-018-1611-7
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- Article