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2019

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

Cammarata-Scalisi, F., Matysiak, U., Velten, T., Callea, M., Araque, D., Willoughby, C. E., Galeotti, A. & Avendaño, A., May 1 2019, In : Molecular Syndromology. 10, 3, p. 167-170 4 p.

Research output: Contribution to journalArticle

Genu Varum
Coxa Vara
Collagen Type X
Mutation
Scoliosis

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

Cammarata-Scalisi, F., Matysiak, U., Velten, T., Callea, M., Araque, D., Willoughby, C. E., Galeotti, A. & Avendaño, A., May 2019, In : Molecular Syndromology. 10, 3, p. 167-170 4 p.

Research output: Contribution to journalArticle

Genu Varum
Coxa Vara
Collagen Type X
Mutation
Scoliosis
Immunotherapy
B-Lymphocytes
Therapeutics
Investigational Therapies
Lymphopenia

Berardinelli-Seip syndrome and progressive myoclonus epilepsy

Serino, D., Davico, C., Specchio, N., Marras, C. E. & Fioretto, F., Feb 1 2019, In : Epileptic Disorders. 21, 1, p. 117-121 5 p.

Research output: Contribution to journalArticle

Congenital Generalized Lipodystrophy
Progressive Myoclonic Epilepsy
Seizures
Vagus Nerve
Mutation

Berberine and Tinospora cordifolia exert a potential anticancer effect on colon cancer cells by acting on specific pathways

Palmieri, A., Scapoli, L., Iapichino, A., Mercolini, L., Mandrone, M., Poli, F., Giannì, A. B., Baserga, C. & Martinelli, M., Jan 1 2019, In : International Journal of Immunopathology and Pharmacology. 33, 2058738419855567.

Research output: Contribution to journalArticle

Open Access
Tinospora
Berberine
Colonic Neoplasms
Epithelial-Mesenchymal Transition
Medicinal Plants

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

SYNAPS Study Group, 2019, In : Brain. 142, 10, p. 2948-2964 17 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia
Nuclear Pore
Exome
Nuclear Envelope

Blunting neuroinflammation with resolvin D1 prevents early pathology in a rat model of Parkinson’s disease

Krashia, P., Cordella, A., Nobili, A., La Barbera, L., Federici, M., Leuti, A., Campanelli, F., Natale, G., Marino, G., Calabrese, V., Vedele, F., Ghiglieri, V., Picconi, B., Di Lazzaro, G., Schirinzi, T., Sancesario, G., Casadei, N., Riess, O., Bernardini, S., Pisani, A. & 6 others, Calabresi, P., Viscomi, M. T., Serhan, C. N., Chiurchiù, V., D’Amelio, M. & Mercuri, N. B., Dec 1 2019, In : Nature Communications. 10, 1, 3945.

Research output: Contribution to journalArticle

Open Access
Parkinson disease
pathology
Pathology
dopamine
rats

Bodyweight-adjusted rivaroxaban for children with venous thromboembolism (EINSTEIN-Jr): results from three multicentre, single-arm, phase 2 studies

EINSTEIN-Jr Phase 2 Investigators, Monagle, P., Lensing, A. W. A., Thelen, K., Martinelli, I., Male, C., Santamaría, A., Samochatova, E., Kumar, R., Holzhauer, S., Saracco, P., Simioni, P., Robertson, J., Grangl, G., Halton, J., Connor, P., Young, G., Molinari, A. C., Nowak-Göttl, U., Kenet, G. & 8 others, Kapsa, S., Willmann, S., Pap, A. F., Becka, M., Twomey, T., Beyer-Westendorf, J., Prins, M. H. & Kubitza, D., Oct 1 2019, In : The Lancet Haematology. 6, 10, p. e500-e509

Research output: Contribution to journalArticle

Venous Thromboembolism
Rivaroxaban
Therapeutics
Hemorrhage
Suspensions

Bone age for chronological age determination - statement of the European Society of Paediatric Radiology musculoskeletal task force group

Ording Müller, L-S., Offiah, A., Adamsbaum, C., Barber, I., Di Paolo, P. L., Humphries, P., Shelmerdine, S., Tanturri De Horatio, L., Toma, P., Treguier, C. & Rosendahl, K., Mar 26 2019, In : Pediatric Radiology.

Research output: Contribution to journalArticle

Advisory Committees
Bone and Bones
Radiologists

Bone Marrow CX3CL1/Fractalkine is a New Player of the Pro-Angiogenic Microenvironment in Multiple Myeloma Patients

Marchica, V., Toscani, D., Corcione, A., Bolzoni, M., Storti, P., Vescovini, R., Ferretti, E., Dalla Palma, B., Vicario, E., Accardi, F., Mancini, C., Martella, E., Ribatti, D., Vacca, A., Pistoia, V. & Giuliani, N., Mar 6 2019, In : Cancers. 11, 3

Research output: Contribution to journalArticle

Chemokine CX3CL1
Multiple Myeloma
Bone Marrow
Metalloproteases
Monoclonal Gammopathy of Undetermined Significance
Encephalitis
Aspartic Acid
Autoimmune Diseases of the Nervous System
Pediatrics
Immunotherapy

Breastfeeding and Respiratory Infections in the First 6 Months of Life: A Case Control Study

Pandolfi, E., Gesualdo, F., Rizzo, C., Carloni, E., Villani, A., Concato, C., Linardos, G., Russo, L., Ferretti, B., Campagna, I. & Tozzi, A., Apr 24 2019, In : Frontiers in Pediatrics. 7, p. 152

Research output: Contribution to journalArticle

Breast Feeding
Respiratory Tract Infections
Case-Control Studies
Mothers
Viruses

Brief resolved unexplained events and apparent life-threatening events: the wall between guidelines and clinical practice

Gatto, A., Paglietti, M. G., Bocchi, M. B., Lazzareschi, I., Cutrera, R. & Valentini, P., May 28 2019, In : Acta Paediatrica, International Journal of Paediatrics.

Research output: Contribution to journalArticle

Buone pratiche per la sorveglianza e il controllo dell’antibiotico-resistenza

Translated title of the contribution: Good practices for the surveillance and control of antimicrobial resistanceMoro, M. L., Ciofi Degli Atti, M., D'Amore, C., Diegoli, G., Forni, S., Gagliotti, C., Gemmi, F., Iannazzo, S., Miraglia, V., Pan, A., Pantosti, A., Pitatlis, S., Puro, V., Ricchizzi, E., Sarnelli, B., Torti, C. & Zotti, C., Jul 12 2019, In : Epidemiologia e prevenzione. 43, 2-3, p. 185-193 9 p.

Research output: Contribution to journalArticle

Amoxicillin
National Institutes of Health (U.S.)
Anti-Bacterial Agents
Education
Clavulanic Acid
Open Access
Adenoids
Turbinates
Asthma
Nasal Mucosa
Nose

Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease

Chinali, M., Lucchetti, L., Ricotta, A., Esposito, C., D'Anna, C., Rinelli, G., Emma, F. & Massella, L., Mar 7 2019, In : CardioRenal Medicine. 9, 3, p. 180-189 10 p.

Research output: Contribution to journalArticle

Autosomal Recessive Polycystic Kidney
Somatotypes
Age Distribution
Left Ventricular Hypertrophy
Echocardiography

Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy

Italian Network for Laminopathies (NIL), Peretto, G., Di Resta, C., Perversi, J., Forleo, C., Maggi, L., Politano, L., Barison, A., Previtali, S. C., Carboni, N., Brun, F., Pegoraro, E., D'Amico, A., Rodolico, C., Magri, F., Manzi, R. C., Palladino, A., Isola, F., Gigli, L., Mongini, T. E. & 21 others, Semplicini, C., Calore, C., Ricci, G., Comi, G. P., Ruggiero, L., Bertini, E., Bonomo, P., Nigro, G., Resta, N., Emdin, M., Favale, S., Siciliano, G., Santoro, L., Sinagra, G., Limongelli, G., Ambrosi, A., Ferrari, M., Golzio, P. G., Bella, P. D., Benedetti, S. & Sala, S., 2019, In : Annals of Internal Medicine. 171, 7, p. 458-463 6 p.

Research output: Contribution to journalArticle

Cardiac and Neuromuscular Features of Patients with LMNA-Related Cardiomyopathy

Italian Network for Laminopathies (NIL), Sep 3 2019, In : Annals of Internal Medicine.

Research output: Contribution to journalArticle

Lamin Type A
Cardiomyopathies
Neuromuscular Manifestations
Heart Diseases
Nervous System

Cardiovascular autonomic individual profile of relapsing-remitting multiple sclerosis patients and risk of extending cardiac monitoring after first dose fingolimod

Vanoli, E., Montano, N., De Angelis, G., Badilini, F., Mirabella, M., Bonavita, S., Patti, F., Bianco, A., Sparaco, M., Chisari, C., Laroni, A., Frigerio, F., Bartezaghi, M., Rossi, S., Turrini, R. & Mancardi, G., 2019, In : Journal of the Neurological Sciences. 405, 116423.

Research output: Contribution to journalArticle

Carnosine decreases PMA-induced oxidative stress and inflammation in murine macrophages

Caruso, G., Fresta, C. G., Fidilio, A., O'donnell, F., Musso, N., Lazzarino, G., Grasso, M., Amorini, A. M., Tascedda, F., Bucolo, C., Drago, F., Tavazzi, B., Lazzarino, G., Lunte, S. M. & Caraci, F., Aug 1 2019, In : Antioxidants. 8, 8, 281.

Research output: Contribution to journalArticle

Open Access
Carnosine
Oxidative stress
Macrophages
Acetates
Oxidative Stress

Carriage meningococcal isolates with capsule null locus dominate among high school students in a non-endemic period, Italy, 2012–2013

Neri, A., Fazio, C., Ambrosio, L., Vacca, P., Barbui, A., Daprai, L., Vocale, C., Santino, I., Conte, M., Rossi, L., Ciammaruconi, A., Anselmo, A., Lista, F. & Stefanelli, P., Jan 1 2019, In : International Journal of Medical Microbiology. 309, 3-4, p. 182-188

Research output: Contribution to journalArticle

Italy
Capsules
Neisseria meningitidis
Genome
Students

Catatonia in Adolescence: First Onset Psychosis or Anti-NMDAr Encephalitis?

Averna, R., Battaglia, C., Labonia, M., Riccioni, A. & Vicari, S., May 30 2019, In : Clinical Neuropharmacology.

Research output: Contribution to journalArticle

Anti-N-Methyl-D-Aspartate Receptor Encephalitis
Catatonia
Psychotic Disorders
Brain Diseases
N-Methyl-D-Aspartate Receptors

Causes of Treatment Failure in Children With Inflammatory Bowel Disease Treated With Infliximab: A Pharmacokinetic Study

Naviglio, S., Lacorte, D., Lucafò, M., Cifù, A., Favretto, D., Cuzzoni, E., Silvestri, T., Pozzi Mucelli, M., Radillo, O., Decorti, G., Fabris, M., Bramuzzo, M., Taddio, A., Stocco, G., Alvisi, P., Ventura, A. & Martelossi, S., Jan 1 2019, In : Journal of Pediatric Gastroenterology and Nutrition. 68, 1, p. 37-44 8 p.

Research output: Contribution to journalArticle

Treatment Failure
Inflammatory Bowel Diseases
Pharmacokinetics
Anti-Idiotypic Antibodies
Pediatrics
Cannabinoid Receptor CB2
pathogenesis
Idiopathic Thrombocytopenic Purpura
Cell death
Immunosuppressive Agents

Cell-laden hydrogel as a clinical-relevant 3D model for analyzing neuroblastoma growth, immunophenotype, and susceptibility to therapies

Marrella, A., Dondero, A., Aiello, M., Casu, B., Olive, D., Regis, S., Bottino, C., Pende, D., Meazza, R., Caluori, G., Castriconi, R. & Scaglione, S., Jan 1 2019, In : Frontiers in Immunology. 10, AUG, Article 1876.

Research output: Contribution to journalArticle

Open Access
Hydrogel
Neuroblastoma
Ligands
Growth
Natural Killer Cells

Central nervous system disorders after hematopoietic stem cell transplantation: a prospective study of the Infectious Diseases Working Party of EBMT

Schmidt-Hieber, M., Engelhard, D., Ullmann, A., Ljungman, P., Maertens, J., Martino, R., Rovira, M., Shaw, P. J., Robin, C., Faraci, M., Byrne, J., Schäfer-Eckart, K., Einsele, H., Faber, E., Rigacci, L., Saccardi, R., Balaguer-Rosello, A., Isaksson, C., Christopeit, M., Tridello, G. & 5 others, Wang, J., Knelange, N., Mikulska, M., Cesaro, S. & Styczynski, J., Jan 1 2019, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Hematopoietic Stem Cell Transplantation
Central Nervous System Diseases
Communicable Diseases
Prospective Studies
Infection
Virus Diseases
Central Nervous System Tuberculosis
HIV-1
Tuberculosis
Central Nervous System

Cephalometric outcomes of a new orthopaedic appliance for Class III malocclusion treatment

Martina, R., D'Antò, V., De Simone, V., Galeotti, A., Rongo, R. & Franchi, L., Jun 17 2019, In : European Journal of Orthodontics.

Research output: Contribution to journalArticle

Cephalometry
Malocclusion
Orthopedics
Splints
Control Groups

Cerebellar Transcranial Direct Current Stimulation (ctDCS) Ameliorates Phantom Limb Pain and Non-painful Phantom Limb Sensations

Bocci, T., De Carolis, G., Ferrucci, R., Paroli, M., Mansani, F., Priori, A., Valeriani, M. & Sartucci, F., Mar 4 2019, In : Cerebellum.

Research output: Contribution to journalArticle

Phantom Limb
Pain
Transcranial Direct Current Stimulation
Kinesthesis
Nociceptive Pain

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: A GENFI study

GENetic Frontotemporal dementia Initiative (GENFI) , 2019, In : Brain. 142, 4, p. 1108-1120 13 p.

Research output: Contribution to journalArticle

Left ventricular assist devices
Pediatrics
Speckle
Heart-Assist Devices
Retrospective Studies

Characterization of an in vitro model to study the possible role of polyomavirus BK in prostate cancer

Villani, S., Gagliano, N., Procacci, P., Sartori, P., Comar, M., Provenzano, M., Favi, E., Ferraresso, M., Ferrante, P. & Delbue, S., 2019, In : Journal of Cellular Physiology. 234, 7, p. 11912-11922

Research output: Contribution to journalArticle

BK Virus
Cell proliferation
Prostatic Neoplasms
Adhesion
Oncogene Proteins

Characterization of C2C12 cells in simulated microgravity: Possible use for myoblast regeneration

Calzia, D., Ottaggio, L., Cora, A., Chiappori, G., Cuccarolo, P., Cappelli, E., Izzotti, A., Tavella, S. & Degan, P., Jan 1 2019, (Accepted/In press) In : Journal of Cellular Physiology.

Research output: Contribution to journalArticle

Weightlessness
Myoblasts
Microgravity
Regeneration
Calcium
Open Access
Liver Cell Adenoma
Glycogen Storage Disease
Magnetic resonance
Glycogen
Magnetic resonance imaging

Characterization of the novel HLA-C*07:708 allele by sequencing-based typing

Cargou, M., Andreani, M., Battarra, M., Guidicelli, G. & Visentin, J., Apr 2019, In : HLA. 93, 4, p. 235-236 2 p.

Research output: Contribution to journalArticle

HLA-C Antigens
Alleles
Codon
Exons
Nucleotides

Characterization of the novel HLA-DPA1*01:20 allele by sequencing-based typing

Cargou, M., Andreani, M., Testa, G., Guidicelli, G. & Visentin, J., Oct 2019, In : HLA. 94, 4, p. 396-397 2 p.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DPA1 antigen

Characterization of the novel HLA-DPA1*02:15 allele by sequencing-based typing

Blouin, L., Andreani, M., Locatelli, F., Guidicelli, G. & Visentin, J., May 8 2019, In : HLA.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DPA1 antigen

Characterization of the novel HLA-DQA1*01:01:05 allele by sequencing-based typing

Ralazamahaleo, M., Andreani, M., Giustiniani, P., Guidicelli, G. & Visentin, J., May 8 2019, In : HLA.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DQA1 antigen

Characterization of the novel HLA-DQA1*01:22 allele by sequencing-based typing

Cargou, M., Andreani, M., Troiano, M., Guidicelli, G. & Visentin, J., May 10 2019, In : HLA.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DQA1 antigen

Characterization of the novel HLA-DQA1*01:25 allele by sequencing-based typing

Cargou, M., Andreani, M., Galluccio, T., Guidicelli, G. & Visentin, J., May 8 2019, In : HLA.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DQA1 antigen

Characterization of the novel HLA-DQA1*01:27 allele by sequencing-based typing

Ralazamahaleo, M., Andreani, M., Di Luzio, A., Guidicelli, G. & Visentin, J., Oct 2019, In : HLA. 94, 4, p. 392-393 2 p.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DQA1 antigen

Characterization of the novel HLA-DQA1*05:14 allele by sequencing-based typing

Cargou, M., Andreani, M., Troiano, M., Guidicelli, G. & Visentin, J., Apr 2019, In : HLA. 93, 4, p. 241-243 3 p.

Research output: Contribution to journalArticle

Alleles
Codon
Exons
Nucleotides
HLA-DQA1 antigen

Characterization of the novel HLA-DRB3*02:02:17 allele by sequencing-based typing

Cargou, M., Andreani, M., Battarra, M., Guidicelli, G. & Visentin, J., May 6 2019, In : HLA.

Research output: Contribution to journalArticle

HLA-DRB3 Chains
Alleles
Codon
Exons
Nucleotides

Characterization of the novel HLA-DRB3*02:96 allele by sequencing-based typing

Blouin, L., Andreani, M., Battarra, M., Guidicelli, G. & Visentin, J., Aug 5 2019, In : HLA.

Research output: Contribution to journalArticle

HLA-DRB3 Chains
Alleles
Codon
Exons
Nucleotides

Characterization of the novel HLA-DRB3*03:01:07 allele by sequencing-based typing

Ralazamahaleo, M., Andreani, M., Galluccio, T., Guidicelli, G. & Visentin, J., Apr 2019, In : HLA. 93, 4, p. 240-241 2 p.

Research output: Contribution to journalArticle

HLA-DRB3 Chains
Codon
Exons
Nucleotides
Alleles

Chest Imaging of a rare case of cat-scratch disease in a 2-years-old baby

Rossi, E., Perrone, A., Bongini, U., Cangelosi, A. M., Sollai, S., Narese, D. & Defilippi, C., Jan 15 2019, In : Acta bio-medica : Atenei Parmensis. 89, 4, p. 585-588 4 p.

Research output: Contribution to journalArticle

Cat-Scratch Disease
Fever of Unknown Origin
Cats
Thorax
Bartonella henselae

Chronic Liver Involvement in Urea Cycle Disorders

Ranucci, G., Rigoldi, M., Cotugno, G., Bernabei, S., Liguori, A., Gasperini, S., Goffredo, B., Martinelli, D., Monti, L., Francalanci, P., Candusso, M., Parini, R. & Dionisi-Vici, C., Jul 1 2019, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticle

Inborn Urea Cycle Disorder
Liver
Liver Diseases
Chronic Disease
alpha-Fetoproteins

Circulating insulin-like growth factor I in relation to melanoma risk in the European prospective investigation into cancer and nutrition

Bradbury, K. E., Appleby, P. N., Tipper, S. J., Travis, R. C., Allen, N. E., Kvaskoff, M., Overvad, K., Tjønneland, A., Halkjær, J., Cervenka, I., Mahamat-Saleh, Y., Bonnet, F., Kaaks, R., Fortner, R. T., Boeing, H., Trichopoulou, A., La Vecchia, C., Stratigos, A. J., Palli, D., Grioni, S. & 26 others, Matullo, G., Panico, S., Tumino, R., Peeters, P. H., Bueno-de-Mesquita, H. B., Ghiasvand, R., Veierød, M. B., Weiderpass, E., Bonet, C., Molina, E., Huerta, J. M., Larrañaga, N., Barricarte, A., Merino, S., Isaksson, K., Stocks, T., Ljuslinder, I., Hemmingsson, O., Wareham, N., Khaw, K. T., Gunter, M. J., Rinaldi, S., Tsilidis, K. K., Aune, D., Riboli, E. & Key, T. J., Mar 1 2019, In : International Journal of Cancer. 144, 5, p. 957-966 10 p.

Research output: Contribution to journalArticle

Open Access
Insulin-Like Growth Factor I
Melanoma
Neoplasms
Odds Ratio
Prospective Studies