If you made any changes in Pure these will be visible here soon.

Research Output 1982 2019

Filter
Article
2019

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

Ranvier's Nodes
Demyelinating Diseases
Protein Isoforms
Inborn Genetic Diseases
Mutation

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

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants

Monasky, M. M., Micaglio, E., Vicedomini, G., Locati, E. T., Ciconte, G., Giannelli, L., Giordano, F., Crisà, S., Vecchi, M., Borrelli, V., Ghiroldi, A., D'Imperio, S., Resta, C. D., Benedetti, S., Ferrari, M., Santinelli, V., Anastasia, L. & Pappone, C., Oct 1 2019, In : Europace. 21, 10, p. 1550-1558 9 p.

Research output: Contribution to journalArticle

Brugada Syndrome
Sudden Death
Sudden Cardiac Death
Peripheral Nervous System
Syncope
Penetrance
Muscle Strength
Immunoglobulin G
Phenotype
Antibodies

Expanding the spectrum of genes responsible for hereditary motor neuropathies

Previtali, S. C., Zhao, E., Lazarevic, D., Pipitone, G. B., Fabrizi, G. M., Manganelli, F., Mazzeo, A., Pareyson, D., Schenone, A., Taroni, F., Vita, G., Bellone, E., Ferrarini, M., Garibaldi, M., Magri, S., Padua, L., Pennisi, E., Pisciotta, C., Riva, N., Scaioli, V. & 11 others, Scarlato, M., Tozza, S., Geroldi, A., Jordanova, A., Ferrari, M., Molineris, I., Reilly, M. M., Comi, G., Carrera, P., Devoto, M. & Bolino, A., Oct 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 10, p. 1171-1179 9 p.

Research output: Contribution to journalArticle

Charcot-Marie-Tooth Disease
Genes
Exome
Phenotype
Neuromuscular Diseases

Novel JAG1 deletion variant in patient with atypical alagille syndrome

Micaglio, E., Andronache, A. A., Carrera, P., Monasky, M. M., Locati, E. T., Pirola, B., Presi, S., Carminati, M., Ferrari, M., Giamberti, A. & Pappone, C., Dec 2 2019, In : International Journal of Molecular Sciences. 20, 24, 6247.

Research output: Contribution to journalArticle

Open Access
Alagille Syndrome
deletion
Neural Tube Defects
heart diseases
Defects

Novel scn5a p.W697x nonsense mutation segregation in a family with brugada syndrome

Micaglio, E., Monasky, M. M., Resta, N., Bagnulo, R., Ciconte, G., Gianelli, L., Locati, E. T., Vicedomini, G., Borrelli, V., Ghiroldi, A., Anastasia, L., Benedetti, S., Di Resta, C., Ferrari, M. & Pappone, C., Oct 1 2019, In : International Journal of Molecular Sciences. 20, 19, 4920.

Research output: Contribution to journalArticle

Open Access
Brugada Syndrome
Nonsense Codon
mutations
Genes
genes

SCN5A nonsense mutation and NF1 frameshift mutation in a family with brugada syndrome and neurofibromatosis

Micaglio, E., Monasky, M. M., Ciconte, G., Vicedomini, G., Conti, M., Mecarocci, V., Giannelli, L., Giordano, F., Pollina, A., Saviano, M., Crisà, S., Borrelli, V., Ghiroldi, A., D’Imperio, S., Di Resta, C., Benedetti, S., Ferrari, M., Santinelli, V., Anastasia, L. & Pappone, C., Feb 2019, In : Frontiers in Genetics. 10, 50.

Research output: Contribution to journalArticle

Open Access
Brugada Syndrome
Frameshift Mutation
Neurofibromatoses
Nonsense Codon
Neurofibroma
2018

Analysis of KRAS, NRAS and BRAF mutational profile by combination of in-tube hybridization and universal tag-microarray in tumor tissue and plasma of colorectal cancer patients

Damin, F., Galbiati, S., Soriani, N., Burgio, V., Ronzoni, M., Ferrari, M. & Chiari, M., 2018, In : PLoS One. 13, 12, e0207876.

Research output: Contribution to journalArticle

Biopsy
Microarrays
colorectal neoplasms
Circulating Neoplastic Cells
Tumors

A novel LIPS assay for insulin autoantibodies

Liberati, D., Wyatt, RC., Brigatti, C., Marzinotto, I., Ferrari, M., Bazzigaluppi, E., Bosi, E., Gillard, BT., Gillespie, KM., Gorus, F., Weets, I., Balti, E., Piemonti, L., Achenbach, P., Williams, AJK. & Lampasona, V., 2018, In : Acta Diabetologica. 55, 3, p. 263-270 8 p.

Research output: Contribution to journalArticle

Luciferases
Autoantibodies
Insulin
Type 1 Diabetes Mellitus
Proinsulin

Are contemporary femoral components sizing and design likely to affect functional results in TKA? A mathematical model of an implanted knee to predict knee forces

Tecame, A., Ferrari, M., Violante, B., Calafiore, G., Papalia, R. & Adravanti, P., Dec 1 2018, In : Musculoskeletal Surgery. 102, 3, p. 289-297 9 p.

Research output: Contribution to journalArticle

Thigh
Knee
Theoretical Models
Muscles
Joints
Single-Photon Emission-Computed Tomography
Calibration
Liver
Uncertainty
Prescriptions

Readily prepared biodegradable nanoparticles to formulate poorly water soluble drugs improving their pharmacological properties: The example of trabectedin

Capasso Palmiero, U., Morosi, L., Bello, E., Ponzo, M., Frapolli, R., Matteo, C., Ferrari, M., Zucchetti, M., Minoli, L., De Maglie, M., Romanelli, P., Morbidelli, M., D'Incalci, M. & Moscatelli, D., Apr 28 2018, In : Journal of Controlled Release. 276, p. 140-149 10 p.

Research output: Contribution to journalArticle

trabectedin
Nanoparticles
Pharmacology
Water
Pharmaceutical Preparations

Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome

Somaschini, M., Presi, S., Ferrari, M., Vergani, B. & Carrera, P., 2018, In : Journal of Perinatology. 38, 4, p. 337-344 8 p.

Research output: Contribution to journalArticle

Premature Infants
Surface-Active Agents
Newborn Infant
Proteins
Lung

The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition

Solazzo, A., Testa, F., Giovanella, S., Busutti, M., Furci, L., Carrera, P., Ferrari, M., Ligabue, G., Mori, G., Leonelli, M., Cappelli, G. & Magistroni, R., 2018, In : PLoS One. 13, 1, e0190430.

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
meta-analysis
Meta-Analysis
autosomal dominant polycystic kidney disease
at-risk population

The role of clinical and neuroimaging features in the diagnosis of CADASIL

on behalf of Lombardia GENS-group, 2018, In : Journal of Neurology. 265, 12, p. 2934-2943

Research output: Contribution to journalArticle

CADASIL
Neuroimaging
Lacunar Stroke
Cerebral Small Vessel Diseases
History

The role of clinical and neuroimaging features in the diagnosis of CADASIL

Bersano, A., Bedini, G., Markus, HS., Vitali, P., Colli-Tibaldi, E., Taroni, F., Gellera, C., Baratta, S., Mosca, L., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Lanfranconi, S., Mazucchelli, F., Zarcone, D., De Lodovici, ML., Bono, G., Boncoraglio, GB., Parati, EA. & 31 others, Calloni, MV., Perrone, P., Bordo, BM., Motto, C., Agostoni, E., Pezzini, A., Padovani, A., Micieli, G., Cavallini, A., Molini, G., Sasanelli, F., Sessa, M., Comi, G., Checcarelli, N., Carmerlingo, M., Corato, M., Marcheselli, S., Fusi, L., Grampa, G., Uccellini, D., Beretta, S., Ferrarese, C., Incorvaia, B., Tadeo, CS., Adobbati, L., Silani, V., Faragò, G., Trobia, N., Grond-Ginsbach, C., Candelise, L. & GENS-group, O. B. O. L., 2018, In : Journal of Neurology. 265, 12, p. 2934-2943 10 p.

Research output: Contribution to journalArticle

CADASIL
Neuroimaging
Lacunar Stroke
Cerebral Small Vessel Diseases
History

The role of clinical and neuroimaging features in the diagnosis of CADASIL

GENS-group, L., Bersano, A., Bedini, G., Markus, H. S., Vitali, P., Colli-Tibaldi, E., Taroni, F., Gellera, C., Baratta, S., Mosca, L., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Lanfranconi, S., Mazucchelli, F., Zarcone, D., De Lodovici, M. L., Bono, G., Boncoraglio, G. B. & 31 others, Parati, E. A., Calloni, M. V., Perrone, P., Bordo, B. M., Motto, C., Agostoni, E., Pezzini, A., Padovani, A., Micieli, G., Cavallini, A., Molini, G., Sasanelli, F., Sessa, M., Comi, G., Checcarelli, N., Carmerlingo, M., Corato, M., Marcheselli, S., Fusi, L., Grampa, G., Uccellini, D., Beretta, S., Ferrarese, C., Incorvaia, B., Tadeo, C. S., Adobbati, L., Silani, V., Faragò, G., Trobia, N., Grond-Ginsbach, C. & Candelise, L., Oct 11 2018, In : Journal of Neurology.

Research output: Contribution to journalArticle

The role of clinical and neuroimaging features in the diagnosis of CADASIL

Lombardia GENS-group, Oct 11 2018, In : Journal of Neurology.

Research output: Contribution to journalArticle

CADASIL
Neuroimaging
Lacunar Stroke
Cerebral Small Vessel Diseases
History

Updated clinical overview on cardiac laminopathies: an electrical and mechanical disease

Peretto, G., Sala, S., Benedetti, S., Di Resta, C., Gigli, L., Ferrari, M. & Della Bella, P., 2018, In : Nucleus (Austin, Tex.). 9, 1, p. 380-391 12 p.

Research output: Contribution to journalArticle

Mutation
Sudden Cardiac Death
Dilated Cardiomyopathy
Bradycardia
Cardiac Myocytes
2017

Ascites interferes with the activity of lurbinectedin and trabectedin: Potential role of their binding to alpha 1-acid glycoprotein

Erba, E., Romano, M., Gobbi, M., Zucchetti, M., Ferrari, M., Matteo, C., Panini, N., Colmegna, B., Caratti, G., Porcu, L., Fruscio, R., Perlangeli, M. V., Mezzanzanica, D., Lorusso, D., Raspagliesi, F. & D'Incalci, M., Nov 15 2017, In : Biochemical Pharmacology. 144, p. 52-62 11 p.

Research output: Contribution to journalArticle

trabectedin
Orosomucoid
Ascites
Glycoproteins
Ovarian Neoplasms

Ascites interferes with the activity of lurbinectedin and trabectedin: Potential role of their binding to alpha 1-acid glycoprotein

Erba, E., Romano, M., Gobbi, M., Zucchetti, M., Ferrari, M., Matteo, C., Panini, N., Colmegna, B., Caratti, G., Porcu, L., Fruscio, R., Perlangeli, M. V., Mezzanzanica, D., Lorusso, D., Raspagliesi, F. & D'Incalci, M., 2017, In : Biochemical Pharmacology. 144, p. 52-62 11 p.

Research output: Contribution to journalArticle

Associations between gender, disease features and symptom burden in patients with myeloproliferative neoplasms: an analysis by the MPN QOL International Working Group

Geyer, H. L., Kosiorek, H., Dueck, A. C., Scherber, R., Slot, S., Zweegman, S., Boekhorst, P. A. T., Senyak, Z., Schouten, H. C., Sackmann, F., Fuentes, A. K., Hernandez-Maraver, D., Pahl, H. L., Griesshammer, M., Stegelmann, F., Dohner, K., Lehmann, T., Bonatz, K., Reiter, A., Boyer, F. & 30 others, Etienne, G., Ianotto, J. C., Ranta, D., Roy, L., Cahn, J. Y., Harrison, C. N., Radia, D., Muxi, P., Maldonado, N., Besses, C., Cervantes, F., Johansson, P. L., Barbui, T., Barosi, G., Vannucchi, A. M., Paoli, C., Passamonti, F., Andreasson, B., Ferrari, M. L., Rambaldi, A., Samuelsson, J., Cannon, K., Birgegard, G., Xiao, Z., Xu, Z., Zhang, Y., Sun, X., Xu, J., Kiladjian, J. J. & Zhang, P., Jan 1 2017, In : Haematologica. 102, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

Essential Thrombocythemia
Polycythemia Vera
Primary Myelofibrosis
Neoplasms
Symptom Assessment

Asthma management in a specialist setting: Results of an Italian Respiratory Society survey

Braido, F., Baiardini, I., Alleri, P., Bacci, E., Barbetta, C., Bellocchia, M., Benfante, A., Blasi, F., Bucca, C., Busceti, M. T., Centanni, S., Colanardi, M. C., Contoli, M., Corsico, A., D'Amato, M., Marco, F. D., Marco, D., Ferrari, M., Florio, G., Fois, A. G. & 23 others, Barbaro, M. P. F., Silvia, G., Girbino, G., Grosso, A., Latorre, M., Maniscalco, S., Mazza, F., Mereu, C., Molinengo, G., Ora, J., Paggiaro, P., Patella, V., Pelaia, G., Pirina, P., Proietto, A., Rogliani, P., Santus, P., Scichilone, N., Simioli, F., Solidoro, P., Terraneo, S., Zuccon, U. & Canonica, G. W., Jun 1 2017, In : Pulmonary Pharmacology and Therapeutics. 44, p. 83-87 5 p.

Research output: Contribution to journalArticle

Disease control
Asthma
Surgery
Economics
Pharmaceutical Preparations

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Camia, F., Pisciotta, L., Morana, G., Schiaffino, M. C., Renna, S., Carrera, P., Ferrari, M., Baglietto, M. G., Veneselli, E., Siri, L. & Mancardi, M. M., Oct 1 2017, In : Cephalalgia. 37, 12, p. 1202-1206 5 p.

Research output: Contribution to journalArticle

Hemiplegia
Brain Edema
Brain Diseases
Coma
Hypertonic Solutions

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

Camia, F., Pisciotta, L., Morana, G., Schiaffino, MC., Renna, S., Carrera, P., Ferrari, M., Baglietto, MG., Veneselli, E., Siri, L. & Mancardi, MM., 2017, In : Cephalalgia. 37, 12, p. 1202-1206 5 p.

Research output: Contribution to journalArticle

Hemiplegia
Brain Edema
Brain Diseases
Coma
Headache

miR-204 is associated with an endocrine phenotype in human pancreatic islets but does not regulate the insulin mRNA through MAFA

Marzinotto, I., Pellegrini, S., Brigatti, C., Nano, R., Melzi, R., Mercalli, A., Liberati, D., Sordi, V., Ferrari, M., Falconi, M., Doglioni, C., Ravassard, P., Piemonti, L. & Lampasona, V., 2017, In : Scientific Reports. 7, 2, 14051.

Research output: Contribution to journalArticle

Islets of Langerhans
Insulin
Phenotype
Messenger RNA
Induced Pluripotent Stem Cells

Pentraxin 3 in patients with severe sepsis or shock: the ALBIOS trial

Caironi, P., Masson, S., Mauri, T., Bottazzi, B., Leone, R., Magnoli, M., Barlera, S., Mamprin, F., Fedele, A., Mantovani, A., Tognoni, G., Pesenti, A., Gattinoni, L., Latini, R., Investigators, T. ALBIOS. B. S., Bruzzone, P., Pagan, F., Russo, R., Confalonieri, A., Abbruzzese, C. & 72 others, Vergnano, B., Faenza, S., Siniscalchi, A., Pierucci, E., Noto, A., Pezzi, A., Spanu, P., Parrini, V., Oggioni, R., Pasetti, G. S., Casadio, M. C., Buontempo, R., Carrer, S., Piccoli, F., Rizzi, T., Caricato, A., La Sala, M., Antonaci, A., Fassini, P., Paganini, S., Porta, V., Moise, G., Marell, S., Furia, M., Urbano, M. C., Carobbi, R., Poleni, S., Kandil, H., Ballotta, A., Bettini, F., Sanseverino, M., Gatta, A., Cecchini, F., Guatteri, L., Ciceri, G., Raimondi, F., Colombo, R., Ferraris, S., Borelli, M., Bellato, V., Cancellieri, F., Senni, S., Bertocchi, E., Ferri, P., Moioli, G., Molin, A., Salati, G., Salsi, P., Brunori, E., Elisei, D., Maggio, G., Nicola, F. G., Cavana, M., Morelli, G., Guarino, A., Isetta, M., Tulli, G., Mangani, V., Rossi, N., Ferrari, M., Bona, F., Vay, M., Bartoli, T., Gallo, M., Vettoretto, K., Della Morte, M., Boselli, E., Puscio, D., Bovo, M., Galzerano, A., Carli, M. & Zagara, G., 2017, In : European Journal of Clinical Investigation. 47, 1, p. 73-83 11 p.

Research output: Contribution to journalArticle

Pharmacodynamic effects in the cerebrospinal fluid of rats after intravenous administration of different asparaginase formulations

Ballerini, A., Moro, F., Nerini, I. F., Marzo, C. M., Di Clemente, A., Ferrari, M., D’Incalci, M., Biondi, A., Colombini, A., Conter, V., Porcu, L., Cervo, L., Rizzari, C. & Zucchetti, M., Jun 1 2017, In : Cancer Chemotherapy and Pharmacology. 79, 6, p. 1267-1271 5 p.

Research output: Contribution to journalArticle

Pharmacodynamics
Cerebrospinal fluid
Asparaginase
Intravenous Administration
Cerebrospinal Fluid

Safety and tolerability of subcutaneous trastuzumab for the adjuvant treatment of human epidermal growth factor receptor 2-positive early breast cancer: SafeHer phase III study's primary analysis of 2573 patients

Gligorov, J., Ataseven, B., Verrill, M., de Laurentiis, M., Jung, K. H., Azim, H. A., Al-Sakaff, N., Lauer, S., Shing, M., Pivot, X., Koroveshi, D., Bouzid, K., Casalnuovo, M., Cascallar, D., Korbenfeld, E. P., Bastick, P., Beith, J., Colosimo, M., Friedlander, M., Ganju, V. & 472 others, Green, M., Patterson, K., Redfern, A., Richardson, G., Ceric, T., Gordana, K., Beato, C. A., Ferrari, M., Hegg, R., Helena, V., Ismael, G. F., Lessa, A. E., Mano, M., Morelle, A., Nogueira, J. A., Timcheva, K., Tomova, A., Tsakova, M., Zlatareva-Petrova, A., Asselah, J., Assi, H., Brezden-Masley, C., Chia, S., Freedman, O., Harb, M., Joy, A. A., Kulkarni, S., Prady, C., Gaete, A. A. A., Matamala, L., Torres, R., Yanez, E., Franco, S., Urrego, M., Gugić, D., Vrbanec, D., Melichar, B., Prausová, J., Vyzula, R., Pilarte, R. G., León, M. I., Muñoz, R., Ramos, G., Azeem, H. A., Aziz, A. A., El Zawahry, H., Osegueda, F. R., Alexandre, J., Artignan, X., Barletta, H., Beguier, E., Berdah, J-F., Marty, C. B., Bollet, M., Bourgeois, H., Bressac, C., Burki, F., Campone, M., Coeffic, D., Cojocarasu, O. Z., Dagada, C., Dalenc, F., Del Piano, F., Desauw, C., Desmoulins, I., Dohollou, N., Egreteau, J., Ferrero, J-M., Foa, C., Garidi, R., Gasnault, L., Guardiola, E., Hamizi, S., Jarcau, R., Jacquin, J-P., Jaubert, D., Jolimoy, G., Mineur, H. L., Largillier, R., Leduc, B., Martin, P., Melis, A., Monge, J., Moullet, I., Mousseau, M., Nguyen, S., Orfeuvre, H., Petit, T., Priou, F., Bach, I. S., Simon, H., Stefani, L., Uwer, L., Youssef, A., Aktas, B., von der Assen, A., Augustin, D., Balser, C., Bauer, L-E., Bechtner, C., Beyer, G., Brucker, C., Bückner, U., Busch, S., Christensen, B., Deryal, M., Farrokh, A., Faust, E., Friedrichs, K., Graf, H., Griesshammer, M., Grischke, E-M., Hänle, C., Heider, A., Henschen, S., Hesse, T., Jackisch, C., Kisro, J., Köhler, A., Kuemmel, S., Lampe, D., Lantzsch, T., Latos, K., Lex, B., Liedtke, C., Luedders, D., Maintz, C., Müller, V., Overkamp, F., Park-Simon, T-W., Paul, M., Prechtl, A., Ringsdorf, U., Runnebaum, I., Ruth, S., Salat, C., Scheffen, I., Schilling, J., Schmatloch, S., Schmidt, M., Schneeweiss, A., Schrader, I., Seipelt, G., Simon, E., Stefek, A., Stickeler, E., Thill, M., Tio, J., Tuczek, A., Warm, M., Weigel, M., Wischnik, A., Wojcinski, S., Ziegler-Löhr, K., Aravantinos, G., Ardavanis, A., Fountzilas, G., Gogas, H., Kakolyris, S., Mavroudis, D., Papadimitriou, C., Papandreou, C., Papazisis, K., Castro, H., Hernandez-Monroy, C. E., Ngan, R., Yeo, W., Bittner, N., Boer, K., Csejtei, A., Horvath, Z., Kocsis, J., Mangel, L. C., Mezei, K., Nagy, Z., Szanto, J., Atmakusuma, D., Fadjari, H., Kurnianda, D., Prayogo, N., Tanggo, E. H., Coate, L., Hennessy, B., Kelly, C., Martin, M., Nasim, S., O'Connor, M., Aieta, M., Allegrini, G., Amadori, D., Bidoli, P., Biti, G., Bordonaro, R., Bottini, A., Carterni, G., Cavanna, L., Cazzaniga, M., Cognetti, F., Contu, A., Cruciani, G., Donadio, M., Falcone, A., Farci, D., Forcignanò, R. C., Frassoldati, A., Gaion, F., Gamucci, T., Giotta, F., de Laurentiis, M., Livi, L., Lorusso, V., Maiello, E., Marchetti, P., Mariani, G., Mion, M., Moscetti, L., Musolino, A., Pazzola, A., Pedrazzoli, P., Pigi, A., de Placido, S., Caremoli, E. R., Santoro, A., Tienghi, A., Ahn, J-S., Lee, K. S., Lee, S. H., Seo, J. H., Sohn, J-H., Cesas, A., Juozaityte, E., Cheah, N. L. C., Chong, F. L. T., Devi, B. C. R., Phua, V., Teoh, D., Ching, L. W., Yusof, M., Corona, J., Dominguez, A., Mendoza, R. L. G., Hernandez, C. A., Ramiro, A. J., Santos, J. M., Espinosa, P. M., Villarreal Garza, C. M., Errihani, H., Bakker, S., van den Berkmortel, F., Blaisse, R. J. B., Huinink, D. T. B., van den Bosch, J., Braun, J. J., Dercksen, M. W., Droogendijk, H., Erdkamp, F., Haringhuizen, A., de Jongh, F. E., Kok, T. C., Los, M., Madretsma, S., Terwogt, J. M. M., van der Padt, A., van Rossum-Schornagel, Q. C., Smilde, T. J., de Valk, B., van der Velden, A., van Warmerdam, L., van de Wouw, A. J., North, R., Kersten, C., Mjaaland, I., Wist, E., Aziz, Z., Masood, N., Rashid, K., Shah, M., Alcedo, J. C., Aleman, D., Neciosup, S., Reategui, R., Valdiviezo, N., Vera, L., Fernando, G., Roque, F., Strebel, H. M., Krzemieniecki, K., Litwiniuk, M., Mruk, A., Pienkowski, T., Sawrycki, P., Slomian, G., Tomczak, P., Afonso, N., Cardoso, F., Damasceno, M., Nave, M., Badulescu, F., Ciule, L., Curescu, S., Eniu, A., Filip, D., Grecea, D., Jinga, D-C., Lungulescu, D., Oprean, C. M., Stanculeanu, D. L., Turdean, M., Dvornichenko, V., Emelyanov, S., Lichinitser, M., Manikhas, A., Sakaeva, D., Shirinkin, V., Stroyakovskiy, D., Abulkhair, O., Zekri, J., Filipovic, S., Kovcin, V., Nedovic, J., Pesic, J., Vasovic, S., Ng, R., Bystricky, B., Leskova, J., Mardiak, J., Mišurová, E., Wagnerova, M., Takač, I., Demetriou, G. S., Dreosti, L., Govender, P., Jordaan, J. P., Veersamy, P., Romero, J. L. A., Lopez, N. B., Arias, C. C., Chacon, J., Aramburo, A. F., Morales, L. A. F., Garcia, M., Estevez, L. G., Garcia-Palomo Perez, A., Garcia Saenz, J. A., Garcia Sanchis, L., Cubells, L. G., Cortijo, L. G., Santiago, S. G., De Aranguiz, B. H. F., Mañas, J. J. I., Gallego, P. J., Cussac, A. L., Ferrandiz, C. L., Garrido, M. L., Alvarez, P. L., Vega, J. M. L., Del Prado, P. M., Jañez, N. M., Murillo, S. M., Rosales, A. M., Jaso, L. M., Fernandez, I. P., Martorell, A. P., Carrion, R. P., Simon, S. P., Alcibar, A. P., Lorenzo, J. P., Garcia, V. Q., Asensio, T. R. Y. C., Maicas, M. D. T., Villanueva Silva, M. J., Killander, F., Svensson, J. H., Fehr, M., Hauser, N., Müller, A., Pagani, O., Passmann-Kegel, H., Popescu, R., Rabaglio, M., Rauch, D., Schlatter, C., Zaman, K., Chang, T-W., Huang, C-S., Wang, H-C., Yu, J-C., Bandidwattanawong, C., Maneechavakajorn, J., Seetalarom, K., Dejthevaporn, T. S., Somwangprasert, A., Vongsaisuwon, M., Akbulut, H., Altundag, K., Arican, A., Bozcuk, H., Eralp, Y., Idris, M., Isikdogan, A., Senol, C. H., Sevinc, A., Uygun, K., Yucel, E., Yucel, I., Yumuk, F., Shparyk, Y., Voitko, N., Jaloudi, M., Adams, J., Agrawal, R., Ahmed, S., Alhasso, A., Allerton, R., Anwar, S., Archer, C., Ashford, R., Barraclough, L., Bertelli, G., Bishop, J., Branson, T., Butt, M., Chakrabarti, A., Chakraborti, P., Churn, M., Crowley, C., Davis, R., Dhadda, A., Eldeeb, H., Fraser, J., Hall, J., Hickish, T., Hogg, M., Howe, T., Joffe, J., Kelleher, M., Kelly, S., Kendall, A., Kristeleit, H., Lumsden, G., Macmillan, C., MacPherson, I., Malik, Z., Mithal, N., Neal, A., Panwar, U., Proctor, A., Proctor, S. J., Raj, S., Rehman, S., Sandri, I., Scatchard, K., Sherwin, E., Sims, E., Singer, J., Smith, S., Tahir, S., Taylor, W., Tsalic, M., Wardley, A., Waters, S., Wheatley, D., Wright, K., Yuille, F., Alonso, I., Artagaveytia, N., Rodriguez, R., Arbona, E., Garcia, Y., Lion, L., Marcano, D. & Van Thuan, T., 2017, In : European Journal of Cancer. 82, p. 237-246 10 p.

Research output: Contribution to journalArticle

Structural and functional brain signatures of C9orf72 in motor neuron disease

Agosta, F., Ferraro, P. M., Riva, N., Spinelli, EG., Domi, T., Carrera, P., Copetti, M., Falzone, Y., Ferrari, M., Lunetta, C., Comi, G., Falini, A., Quattrini, A. & Filippi, M., 2017, In : Neurobiology of Aging. 57, 1, p. 206-219 14 p.

Research output: Contribution to journalArticle

Motor Neuron Disease
Chromosomes, Human, Pair 9
Open Reading Frames
Brain
Magnetic Resonance Imaging

Structural and functional brain signatures of C9orf72 in motor neuron disease

Agosta, F., Ferraro, P. M., Riva, N., Spinelli, E. G., Domi, T., Carrera, P., Copetti, M., Falzone, Y., Ferrari, M., Lunetta, C., Comi, G., Falini, A., Quattrini, A. & Filippi, M., Sep 1 2017, In : Neurobiology of Aging. 57, p. 206-219 14 p.

Research output: Contribution to journalArticle

Motor Neuron Disease
Chromosomes, Human, Pair 9
Open Reading Frames
Brain
Magnetic Resonance Imaging

TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

Pozzi, L., Valenza, F., Mosca, L., Dal Mas, A., Domi, T., Romano, A., Tarlarini, C., Falzone, YM., Tremolizzo, L., Sorarù, G., Cerri, F., Ferraro, P. M., Basaia, S., Agosta, F., Fazio, R., Comola, M., Comi, G., Ferrari, M., Quattrini, A., Lunetta, C. & 4 others, Penco, S., Bonanomi, D., Carrera, P. & Riva, N., 2017, In : Journal of neurology, neurosurgery, and psychiatry. 88, 10, p. 869-875 7 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Phosphotransferases
Mutation
Fibroblasts
Phosphorylation

Totally extraperitoneal (TEP) bilateral hernioplasty using the Single Site® robotic da Vinci platform (DV-SS TEP): description of the technique and preliminary results

Cestari, A., Galli, A. C., Sangalli, M. N., Zanoni, M., Ferrari, M. & Roviaro, G., Jun 1 2017, In : Hernia. 21, 3, p. 383-389 7 p.

Research output: Contribution to journalArticle

Herniorrhaphy
Robotics
Inguinal Hernia
Operative Time
Cosmetics

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Ciammola, A., Carrera, P., Di Fonzo, A., Sassone, J., Villa, R., Poletti, B., Ferrari, M., Girotti, F., Monfrini, E., Buongarzone, G., Silani, V., Cinnante, C. M., Mignogna, M. L., D'Adamo, P. & Bonati, M. T., Nov 2017, In : Parkinsonism and Related Disorders. 44, p. 142-146 5 p.

Research output: Contribution to journalArticle

Mosaicism
Parkinsonian Disorders
Intellectual Disability
Globus Pallidus
Tremor

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Ciammola, A., Carrera, P., Di Fonzo, A., Sassone, J., Villa, R., Poletti, B., Ferrari, M., Girotti, F., Monfrini, E., Buongarzone, G., Silani, V., Cinnante, CM., Mignogna, ML., D'Adamo, P. & Bonati, MT., 2017, In : Parkinsonism and Related Disorders. 44, 3, p. 142-146 5 p.

Research output: Contribution to journalArticle

Mosaicism
Parkinsonian Disorders
Intellectual Disability
Globus Pallidus
Tremor
Mosaicism
Parkinsonian Disorders
Intellectual Disability
Globus Pallidus
Tremor
2016

Beyond the cardiovascular risk charts: the new way of hybrid profiles

Romeo, F., Novelli, G., Ferrari, M. & Talamo, M., Jul 27 2016, (Accepted/In press) In : Journal of Cardiovascular Medicine.

Research output: Contribution to journalArticle

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S., Ronchi, D., Bassi, M. T. & 42 others, Obici, L., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C. S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G. P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C. & Candelise, L., Jul 1 2016, In : Stroke. 47, 7, p. 1702-1709 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S. P., Ronchi, D., Bassi, M. T. & 42 others, Obici, L. P., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C. S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G. P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C. & Candelise, L., Jul 1 2016, In : Stroke. 47, 7, p. 1702-1709 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S. P., Ronchi, D., Bassi, M. T. & 42 others, Obici, L. P., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C. S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G. P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C. & Candelise, L., Jul 1 2016, In : Stroke. 47, 7, p. 1702-1709 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S. P., Ronchi, D., Bassi, M. T. & 42 others, Obici, L. P., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C. S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G. P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C. & Candelise, L., Jul 1 2016, In : Stroke. 47, 7, p. 1702-1709 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S. P., Ronchi, D., Bassi, M. T. & 42 others, Obici, L. P., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C. S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G. P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C. & Candelise, L., Jul 1 2016, In : Stroke. 47, 7, p. 1702-1709 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Clinical pregenetic screening for stroke monogenic diseases: Results from lombardia GENS registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S. P., Ronchi, D., Bassi, M. T. & 42 others, Obici, L. P., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Capitani, E., Tancredi, L., Arnaboldi, M., Incorvaia, B., Tadeo, C. S., Fusi, L., Grampa, G., Merlini, G., Trobia, N., Comi, G. P., Braga, M., Vitali, P., Baron, P., Grond-Ginsbach, C. & Candelise, L., Jul 1 2016, In : Stroke. 47, 7, p. 1702-1709 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry

Bersano, A., Markus, H. S., Quaglini, S., Arbustini, E., Lanfranconi, S., Micieli, G., Boncoraglio, G. B., Taroni, F., Gellera, C., Baratta, S., Penco, S., Mosca, L., Grasso, M., Carrera, P., Ferrari, M., Cereda, C., Grieco, G., Corti, S., Ronchi, D., Bassi, M. T. & 31 others, Obici, L., Parati, E. A., Pezzini, A., De Lodovici, M. L., Verrengia, E. P., Bono, G., Mazucchelli, F., Zarcone, D., Calloni, M. V., Perrone, P., Bordo, B. M., Colombo, A., Padovani, A., Cavallini, A. M., Beretta, S., Ferrarese, C., Motto, C., Agostoni, E., Molini, G., Sasanelli, F., Corato, M., Marcheselli, S., Sessa, M., Comi, G., Checcarelli, N., Guidotti, M., Uccellini, D., Merlini, G., Comi, G. P., Vitali, P. & Lombardia GENS Group*, Jul 2016, In : Stroke. 47, 7, p. 1702-9 8 p.

Research output: Contribution to journalArticle

Registries
Stroke
Transient Ischemic Attack
Familial Cerebral Amyloid Angiopathy
CADASIL

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

Orellana, D., Santambrogio, P., Rubio, A., Yekhlef, L., Cancellieri, C., Dusi, S., Giannelli, S. G., Venco, P., Mazzara, P. G., Cozzi, A., Ferrari, M., Garavaglia, B., Taverna, S., Tiranti, V. S., Broccoli, V. & Levi, S., Oct 1 2016, In : EMBO Molecular Medicine. 8, 10, p. 1197-1211 15 p.

Research output: Contribution to journalArticle

Pantothenate Kinase-Associated Neurodegeneration
Coenzyme A
Neurons
Induced Pluripotent Stem Cells
Premature Mortality

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration

Orellana Riquelme, D. I., Santambrogio, P., Rubio, A., Yekhlef, L., Cancellieri, C., Dusi, S., Giannelli, S. G., Venco, P., Mazzara, P. G., Cozzi, A., Ferrari, M., Garavaglia, B., Taverna, S., Tiranti, V., Broccoli, V. & Levi, S., Oct 1 2016, In : EMBO Molecular Medicine. 8, 10, p. 1197-1211 15 p.

Research output: Contribution to journalArticle

Pantothenate Kinase-Associated Neurodegeneration
Coenzyme A
Neurons
Induced Pluripotent Stem Cells
Premature Mortality

COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, S., Monguzzi, A., Damin, F., Soriani, N., Passiu, M., Castellani, C., Natacci, F., Curcio, C., Seia, M., Lalatta, F., Chiari, M., Ferrari, M. & Cremonesi, L., Feb 24 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Mothers
Thalassemia
Polymerase Chain Reaction
Mutation
Temperature

COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, S., Monguzzi, A., Damin, F., Soriani, N., Passiu, M., Castellani, C., Natacci, F., Curcio, C., Seia, M., Lalatta, F., Chiari, M., Ferrari, M. & Cremonesi, L., 2016, In : Journal of Medical Genetics. 53, 7, p. 481-487 7 p.

Research output: Contribution to journalArticle

Mothers
Thalassemia
Polymerase Chain Reaction
Mutation
Temperature

COLD-PCR and microarray: Two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma

Galbiati, S., Monguzzi, A., Damin, F., Soriani, N., Passiu, M., Castellani, C., Natacci, F., Curcio, C., Seia, M., Lalatta, F., Chiari, M., Ferrari, M. & Cremonesi, L., Jul 1 2016, In : Journal of Medical Genetics. 53, 7, p. 481 - 487 7 p.

Research output: Contribution to journalArticle

Mothers
Thalassemia
Polymerase Chain Reaction
Mutation
Temperature