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A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript “single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1” written by pechmann and colleagues”

Sansone, V. A., Pane, M., Messina, S., Bruno, C., D'Amico, A., Albamonte, E., Catteruccia, M., Sframeli, M., Pedemonte, M., Vita, G., Bertini, E., Mercuri, E., Leone, D., de Sanctis, R., Forcina, N., Piastra, M., Genovese, O., Pedicelli, A., Versaci, A., Rulli, I. & 30 others, Gitto, E., Faraone, C., La Foresta, S., Macrì, M., Colia, G., Bonetti, A. M., Carlesi, A., Cutrera, R., Chiarini, M. B., Ferretti, M., Garaventa, A., Montobbio, G., Gandolfo, C., Iurilli, V., Tacchetti, P., Bobeica, E., D'Agostino, A., Pirola, A., Lupone, S., De Mattia, E., Falcier, E., Rao, F., Casiraghi, J., Salmin, F., Grandi, C., Fedeli, F., Mancini, L., Stoia, P., Heinen, M. & Cozzi, V., 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 729-731 3 p.

Research output: Contribution to journalArticle

A 6 day course of liposomal amphotericin B in the treatment of infantile visceral leishmaniasis: The Italian experience

Cascio, A., di Martino, L., Occorsio, P., Giacchino, R., Catania, S., Gigliotti, A. R., Aiassa, C., Iaria, C., Giordano, S., Colomba, C., Polara, V. F., Titone, L., Gradoni, L., Gramiccia, M. & Antinori, S., Jul 2004, In : Journal of Antimicrobial Chemotherapy. 54, 1, p. 217-220 4 p.

Research output: Contribution to journalArticle

A 6-month-old girl with cardiomyopathy who nearly died

Di Rocco, M., Patrini, C., Rimini, A. & Rindi, G., Mar 1 1997, In : Lancet. 349, 9052, p. 616 1 p.

Research output: Contribution to journalArticle

A 7-month-old boy with liver abscesses

Marchetti, F., Taddio, A., L'Erario, I. & Ventura, A., Feb 2010, In : Journal of Pediatric Gastroenterology and Nutrition. 50, 2, p. 117 1 p.

Research output: Contribution to journalArticle

A 7-year-old girl with hip pain and leg weakness

Biasotti, S., Garaventa, A., Gambini, C., Stella, G. & De Bernardi, B., 2001, In : European Journal of Pediatrics. 160, 4, p. 255-257 3 p.

Research output: Contribution to journalArticle

Aase-Smith syndrome: Report of a new case

D'Avanzo, M., Pistoia, V., Tolone, C., Toraldo, R., Santinelli, R. & Iafusco, F., 1988, In : British Journal of Haematology. 70, 1, p. 125-126 2 p.

Research output: Contribution to journalArticle

Abatacept (cytotoxic T lymphocyte antigen 4-immunoglobulin) improves B cell function and regulatory T cell inhibitory capacity in rheumatoid arthritis patients non-responding to anti-tumour necrosis factor-α agents

Picchianti Diamanti, A., Rosado, M. M., Scarsella, M., Germano, V., Giorda, E., Cascioli, S., Laganà, B., D'Amelio, R. & Carsetti, R., 2014, In : Clinical and Experimental Immunology. 177, 3, p. 630-640 11 p.

Research output: Contribution to journalArticle

Abatacept improves health-related quality of life, pain, sleep quality, and daily participation in subjects with juvenile idiopathic arthritis.

Ruperto, N., Lovell, D. J., Li, T., Sztajnbok, F., Goldenstein-Schainberg, C., Scheinberg, M., Penades, I. C., Fischbach, M., Alcala, J. O., Hashkes, P. J., Hom, C., Jung, L., Lepore, L., Oliveira, S., Wallace, C., Alessio, M., Quartier, P., Cortis, E., Eberhard, A., Simonini, G. & 10 others, Lemelle, I., Chalom, E. C., Sigal, L. H., Block, A., Covucci, A., Nys, M., Martini, A., Giannini, E. H., Paediatric Rheumatology International Trials Organisation (PRINTO), R. I. T. O. PRINTO. & Pediatric Rheumatology Collaborative Study Group (PRCSG), R. C. S. G. PRCSG., Nov 2010, In : Arthritis Care and Research. 62, 11, p. 1542-1551 10 p.

Research output: Contribution to journalArticle

Abatacept in children with juvenile idiopathic arthritis: a randomised, double-blind, placebo-controlled withdrawal trial

Ruperto, N., Lovell, D. J., Quartier, P., Paz, E., Rubio-Pérez, N., Silva, C. A., Abud-Mendoza, C., Burgos-Vargas, R., Gerloni, V., Melo-Gomes, J. A., Saad-Magalhães, C., Sztajnbok, F., Goldenstein-Schainberg, C., Scheinberg, M., Penades, I. C., Fischbach, M., Orozco, J., Hashkes, P. J., Hom, C., Jung, L. & 8 others, Lepore, L., Oliveira, S., Wallace, C. A., Sigal, L. H., Block, A. J., Covucci, A., Martini, A. & Giannini, E. H., 2008, In : Lancet. 372, 9636, p. 383-391 9 p.

Research output: Contribution to journalArticle

ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system

Peca, D., Cutrera, R., Masotti, A., Boldrini, R. & Danhaive, O., Oct 1 2015, In : Biochemical Society Transactions. 43, p. 913-919 7 p.

Research output: Contribution to journalArticle

ABCA3 mutation and pulmonary hypertension: A link with alveolar capillary dysplasia?

Danhaive, O., Peca, D. & Boldrini, R., Jun 2008, In : Journal of Pediatrics. 152, 6, p. 891-892 2 p.

Research output: Contribution to journalArticle

ABCB1 and ABCC1 variants associated with virological failure of first]line protease inhibitors antiretroviral regimens in northeast Brazil patients

Coelho, A. V. C., Silva, S. P. S., De Alencar, L. C. A., Stocco, G., Crovella, S., Brandão, L. A. C. & Guimarães, R. L., Dec 2013, In : Journal of Clinical Pharmacology. 53, 12, p. 1286-1293 8 p.

Research output: Contribution to journalArticle

ABCB1 gene polymorphisms and expression of P-glycoprotein and long-term prognosis in colorectal cancer

De Iudicibus, S., De Pellegrin, A., Stocco, G., Bartoli, F., Bussani, R. & Decorti, G., Nov 2008, In : Anticancer Research. 28, 6 B, p. 3921-3928 8 p.

Research output: Contribution to journalArticle

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

Gaslini Pediatric Stroke Group, Jul 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 725-728 4 p.

Research output: Contribution to journalArticle

ABC protein transport of MRI contrast agents in canalicular rat liver plasma vesicles and yeast vacuoles

Pascolo, L., Petrovic, S., Cupelli, F., Bruschi, C. V., Anelli, P. L., Lorusso, V., Visigalli, M., Uggeri, F. & Tiribelli, C., 2001, In : Biochemical and Biophysical Research Communications. 282, 1, p. 60-66 7 p.

Research output: Contribution to journalArticle

A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia

Cirmena, G., Aliano, S., Fugazza, G., Bruzzone, R., Garuti, A., Bocciardi, R., Bacigalupo, A., Ravazzolo, R., Ballestrero, A. & Sessarego, M., Jun 2008, In : Cancer Genetics and Cytogenetics. 183, 2, p. 105-108 4 p.

Research output: Contribution to journalArticle

Abdomen/pelvis computed tomography in staging of pediatric Hodgkin Lymphoma: is it always necessary?

Farruggia, P., Puccio, G., Sala, A., Todesco, A., Terenziani, M., Mura, R., D'Amico, S., Casini, T., Mosa, C., Pillon, M., Boaro, M. P., Bottigliero, G., Burnelli, R., Consarino, C., Fedeli, F., Mascarin, M., Perruccio, K., Schiavello, E., Trizzino, A., Ficola, U. & 2 others, Garaventa, A. & Rossello, M., Sep 1 2016, In : Cancer Medicine. 5, 9, p. 2359-2367 9 p.

Research output: Contribution to journalArticle

Abdomen/pelvis computed tomography in staging of pediatric Hodgkin Lymphoma: is it always necessary?

Farruggia, P., Puccio, G., Sala, A., Todesco, A., Terenziani, M., Mura, R., D'Amico, S., Casini, T., Mosa, C., Pillon, M., Boaro, M. P., Bottigliero, G., Burnelli, R., Consarino, C., Fedeli, F., Mascarin, M., Perruccio, K., Schiavello, E., Trizzino, A., Ficola, U. & 2 others, Garaventa, A. & Rossello, M., Sep 1 2016, In : Cancer Medicine. 5, 9, p. 2359-2367 9 p.

Research output: Contribution to journalArticle

Abdomen/pelvis computed tomography in staging of pediatric Hodgkin Lymphoma: is it always necessary?

Farruggia, P., Puccio, G., Sala, A., Todesco, A., Terenziani, M., Mura, R., D'Amico, S., Casini, T., Mosa, C., Pillon, M., Boaro, M. P., Bottigliero, G., Burnelli, R., Consarino, C., Fedeli, F., Mascarin, M., Perruccio, K., Schiavello, E., Trizzino, A., Ficola, U. & 2 others, Garaventa, A. & Rossello, M., Sep 1 2016, In : Cancer Medicine. 5, 9, p. 2359-2367 9 p.

Research output: Contribution to journalArticle

Abdomen/pelvis computed tomography in staging of pediatric Hodgkin Lymphoma: is it always necessary?

Farruggia, P., Puccio, G., Sala, A., Todesco, A., Terenziani, M., Mura, R., D'Amico, S., Casini, T., Mosa, C., Pillon, M., Boaro, M. P., Bottigliero, G., Burnelli, R., Consarino, C., Fedeli, F., Mascarin, M., Perruccio, K., Schiavello, E., Trizzino, A., Ficola, U. & 2 others, Garaventa, A. & Rossello, M., Sep 1 2016, In : Cancer Medicine. 5, 9, p. 2359-2367 9 p.

Research output: Contribution to journalArticle

ABDOMEN PEDIATRIC DOPPLER APPLICATIONS

Toma, P., Costa, A., Cariati, M. & Magnano, G. M., 1990, In : Journal d'Echographie et de Medecine par Ultrasons. 11, 2, p. 81-84 4 p.

Research output: Contribution to journalArticle

Abdominal acupuncture reduces laser-evoked potentials in healthy subjects

Pazzaglia, C., Liguori, S., Minciotti, I., Testani, E., Tozzi, A. E., Liguori, A., Petti, F., Padua, L. & Valeriani, M., Sep 1 2015, In : Clinical Neurophysiology. 126, 9, p. 1761-1768 8 p.

Research output: Contribution to journalArticle

Abdominal asymmetry in a 17 year old girl.

Scarpa, M. G., Norbedo, S., Murru, F., Bortul, M., Bussani, R. & Scarpa, M. G., Nov 2012, In : Pediatria Medica e Chirurgica. 34, 6, p. 297-298 2 p.

Research output: Contribution to journalArticle

Abdominal pain and wandering spleen in young children: the importance of an early diagnosis

Di Crosta, I., Inserra, A., Gil, C. P., Pisani, M. & Ponticelli, A., Jul 2009, In : Journal of Pediatric Surgery. 44, 7, p. 1446-1449 4 p.

Research output: Contribution to journalArticle

Abdominal wall defects: A 33-year unicentric experience

Guida, E., Pini-Prato, A., Mattioli, G., Carlucci, M., Avanzini, S., Buffa, P., Michelazzi, A., Montobbio, G. & Jasonni, V., Apr 2013, In : Minerva Pediatrica. 65, 2, p. 179-185 7 p.

Research output: Contribution to journalArticle

Abdominoscrotal hydrocele: A reliable surgical technique

Ferro, F., Spagnoli, A., Lucchetti, M. C. & Marchetti, P., 2000, In : Urology. 55, 5, p. 771-773 3 p.

Research output: Contribution to journalArticle

Abdominoscrotal hydrocele in childhood - Report of four cases and review of the literature

Ferro, F., Lais, A., Orazi, C., Spagnoli, A. & Caione, P., Apr 1995, In : Pediatric Surgery International. 10, 4, p. 276-278 3 p.

Research output: Contribution to journalArticle

A benign form of thalassaemia intermedia may be determined by the interaction of triplicated α locus and heterozygous β-thalassaemia

Camaschella, C., Bertero, M. T., Serra, A., Dall'Acqua, M., Gasparini, P., Trento, M., Vettore, L., Perona, G., Saglio, G. & Mazza, U., 1987, In : British Journal of Haematology. 66, 1, p. 103-107 5 p.

Research output: Contribution to journalArticle

Aberrant activation of ROS1 represents a new molecular defect in chronic myelomonocytic leukemia

Cilloni, D., Carturan, S., Bracco, E., Campia, V., Rosso, V., Torti, D., Calabrese, C., Gaidano, V., Niparuck, P., Favole, A., Signorino, E., Iacobucci, I., Morano, A., De Luca, L., Musto, P., Frassoni, F. & Saglio, G., May 2013, In : Leukemia Research. 37, 5, p. 520-530 11 p.

Research output: Contribution to journalArticle

Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome

Olk-Batz, C., Poetsch, A. R., Nöllke, P., Claus, R., Zucknick, M., Sandrock, I., Witte, T., Strahm, B., Hasle, H., Zecca, M., Starý, J., Bergstraesser, E., De Moerloose, B., Trebo, M., Van Den Heuvel-Eibrink, M. M., Wojcik, D., Locatelli, F., Plass, C., Niemeyer, C. M. & Flotho, C., May 5 2011, In : Blood. 117, 18, p. 4871-4880 10 p.

Research output: Contribution to journalArticle

Aberrant expression of TRAIL in B chronic lymphocytic leukemia (B-CLL) cells

Secchiero, P., Tiribelli, M., Barbarotto, E., Celeghini, C., Michelutti, A., Masolini, P., Fanin, R. & Zauli, G., Nov 2005, In : Journal of Cellular Physiology. 205, 2, p. 246-252 7 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum

Pantaleoni, F., Lev, D., Cirstea, I. C., Motta, M., Lepri, F. R., Bottero, L., Cecchetti, S., Linger, I., Paolacci, S., Flex, E., Novelli, A., Carè, A., Ahmadian, M. R., Stellacci, E. & Tartaglia, M., Jul 1 2017, In : Human Mutation. 38, 7, p. 798-804 7 p.

Research output: Contribution to journalArticle

Aberrant Left Innominate Artery From the Left Descending Aorta in Right Aortic Arch: Echocardiographic Diagnosis

Barcudi, S., Sanders, S. P., Di Donato, R. M., de Zorzi, A., Iacobelli, R., Amodeo, A., Gagliardi, M. G., Borgia, F., Pongiglione, G. & Rinelli, G., Feb 2010, In : Journal of the American Society of Echocardiography. 23, 2

Research output: Contribution to journalArticle

Aberrant right subclavian artery: Incidence and correlation with other markers of Down syndrome in second-trimester fetuses

Paladini, D., Sglavo, G., Pastore, G., Masucci, A., D'Armiento, M. R. & Nappi, C., Feb 2012, In : Ultrasound in Obstetrics and Gynecology. 39, 2, p. 191-195 5 p.

Research output: Contribution to journalArticle

Aberrations of chromosome No. 1 in blastic phase of chronic myeloid leukemia

Alimena, G., Dallapiccola, B., Mitelman, F. & Montuoro, A., 1980, In : Hereditas. 92, 1, p. 59-63 5 p.

Research output: Contribution to journalArticle

ABERRAZIONI CROMOSOMICHE COMUNI NELLA SINDROME DI LOUIS BAR (ATASSIA TELEANGIECTASIA)

Translated title of the contribution: Common chromosome aberrations in patients with Louis Bar syndrome (ataxia teleangiectasia)Dallapiccola, B., Calabro, A. & Alimena, G., 1977, In : Rivista Italiana di Pediatria. 3, 1, p. 29-38 10 p.

Research output: Contribution to journalArticle

A between-subjects test of the lower-identification/ higher-priming paradox

Rubino, I. A., Rociola, G., Di Lorenzo, G., Magni, V., Ribolsi, M., Mancini, V., Saya, A., Pezzarossa, B., Siracusano, A. & Suslow, T., 2013, In : Perception. 42, 3, p. 271-281 11 p.

Research output: Contribution to journalArticle

Ability of 18F-DOPA PET/CT and fused 18F-DOPA PET/MRI to assess striatal involvement in paediatric glioma

Morana, G., Puntoni, M., Garre', M. L., Massollo, M., Lopci, E., Naseri, M., Severino, M., Tortora, D., Rossi, A. & Piccardo, A., Feb 25 2016, (Accepted/In press) In : European Journal of Nuclear Medicine and Molecular Imaging. p. 1-9 9 p.

Research output: Contribution to journalArticle

Ability of 18F-DOPA PET/CT and fused 18F-DOPA PET/MRI to assess striatal involvement in paediatric glioma

Morana, G., Puntoni, M., Garrè, M. L., Massollo, M., Gallucci, M., Naseri, M., Severino, M., Tortora, D., Rossi, A. & Piccardo, A., Feb 25 2016, (Accepted/In press) In : European Journal Of Nuclear Medicine. p. 1-9 9 p.

Research output: Contribution to journalArticle

Ability of interleukin-4 to elicit an immunoreaction against a murine tumor.

Bosco, M. C., Giovarelli, M. & Forni, G., Jan 1988, In : Giornale di Batteriologia Virologia ed Immunologia. 81, 1-12, p. 3-9 7 p.

Research output: Contribution to journalArticle

Ab initio Everolimus-based Versus Standard Calcineurin Inhibitor Immunosuppression Regimen in Liver Transplant Recipients

Manzia, T. M., Angelico, R., Toti, L., Grimaldi, C., Sforza, D., Vella, I., Tariciotti, L., Lenci, I., Breshanaj, G., Baiocchi, L. & Tisone, G., Feb 7 2018, In : Transplantation Proceedings. 50, 1, p. 175-183 9 p.

Research output: Contribution to journalArticle

A Bioinformatics Approach to the Identification of Variants Associated with Type 1 and Type 2 Diabetes Mellitus that Reside in Functionally Validated miRNAs Binding Sites

Ghaedi, H., Bastami, M., Jahani, M. M., Alipoor, B., Tabasinezhad, M., Ghaderi, O., Nariman-Saleh-Fam, Z., Mirfakhraie, R., Movafagh, A., Omrani, M. D. & Masotti, A., Jan 28 2016, (Accepted/In press) In : Biochemical Genetics. p. 1-11 11 p.

Research output: Contribution to journalArticle

A biology-driven approach identifies the hypoxia gene signature as a predictor of the outcome of neuroblastoma patients

Fardin, P., Barla, A., Mosci, S., Rosasco, L., Verri, A., Versteeg, R., Caron, H. N., Molenaar, J. J., Øra, I., Eva, A., Puppo, M. & Varesio, L., Jul 12 2010, In : Molecular Cancer. 9, 185.

Research output: Contribution to journalArticle