Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
Grandis, M, Obici, L, Luigetti, M, Briani, C, Benedicenti, F, Bisogni, G, Canepa, M, Cappelli, F, Danesino, C, Fabrizi, G M, Fenu, S, Ferrandes, G, Gemelli, C, Manganelli, F, Mazzeo, A, Melchiorri, L, Perfetto, F, Pradotto, L G, Rimessi, P, Tini, G, Tozza, S, Trevisan, L, Pareyson, D, Mandich, P
Published in Orphanet journal of rare diseases (14.12.2020)
Published in Orphanet journal of rare diseases (14.12.2020)
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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
Montagnese, Federica, Barca, E., Musumeci, O., Mondello, S., Migliorato, A., Ciranni, A., Rodolico, C., De Filippi, P., Danesino, C., Toscano, A.
Published in Journal of neurology (01.04.2015)
Published in Journal of neurology (01.04.2015)
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Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia
Colombo, G., Bortolotti, F., Chiapponi, V., Buttini, F., Sonvico, F., Invernizzi, R., Quaglia, F., Danesino, C., Pagella, F., Russo, P., Bettini, R., Colombo, P., Rossi, A.
Published in International journal of pharmaceutics (30.11.2016)
Published in International journal of pharmaceutics (30.11.2016)
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Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies
Pichiecchio, A., Sacco, S., De Filippi, P., Caverzasi, E., Ravaglia, S., Bastianello, S., Danesino, C.
Published in Journal of neurology (01.10.2017)
Published in Journal of neurology (01.10.2017)
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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Musumeci, O, la Marca, G, Spada, M, Mondello, S, Danesino, C, Comi, G P, Pegoraro, E, Antonini, G, Marrosu, G, Liguori, R, Morandi, L, Moggio, M, Massa, R, Ravaglia, S, Di Muzio, A, Filosto, M, Tonin, P, Di Iorio, G, Servidei, S, Siciliano, G, Angelini, C, Mongini, T, Toscano, A
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2016)
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Langerhans cell histiocytosis in adults. Report from the International Registry of the Histiocyte Society
Aricò, M, Girschikofsky, M, Généreau, T, Klersy, C, McClain, K, Grois, N, Emile, J-F, Lukina, E, De Juli, E, Danesino, C
Published in European journal of cancer (1990) (01.11.2003)
Published in European journal of cancer (1990) (01.11.2003)
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Diagnosis of glycogenosis type II
Bembi, B, Cerini, E, Danesino, C, Donati, M A, Gasperini, S, Morandi, L, Musumeci, O, Parenti, G, Ravaglia, S, Seidita, F, Toscano, A, Vianello, A
Published in Neurology (02.12.2008)
Published in Neurology (02.12.2008)
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Management and treatment of glycogenosis type II
Bembi, B, Cerini, E, Danesino, C, Donati, M A, Gasperini, S, Morandi, L, Musumeci, O, Parenti, G, Ravaglia, S, Seidita, F, Toscano, A, Vianello, A
Published in Neurology (02.12.2008)
Published in Neurology (02.12.2008)
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Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
Villa, R., Fergnani, V.G.C., Silipigni, R., Guerneri, S., Cinnante, C., Guala, A., Danesino, C., Scola, E., Conte, G., Fumagalli, M., Gangi, S., Colombo, L., Picciolini, O., Ajmone, P.F., Accogli, A., Madia, F., Tassano, E., Scala, M., Capra, V., Srour, M., Spaccini, L., Righini, A., Greco, D., Castiglia, L., Romano, C., Bedeschi, M.F.
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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Pathogenesis of haemophagocytic lymphohistiocytosis
Aricò, Maurizio, Danesino, Cesare, Pende, Daniela, Moretta, Lorenzo
Published in British journal of haematology (01.09.2001)
Published in British journal of haematology (01.09.2001)
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The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome
Minelli, A, Maserati, E, Nicolis, E, Zecca, M, Sainati, L, Longoni, D, Lo Curto, F, Menna, G, Poli, F, De Paoli, E, Cipolli, M, Locatelli, F, Pasquali, F, Danesino, C
Published in Leukemia (01.04.2009)
Published in Leukemia (01.04.2009)
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Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients
Morini, J, Babini, G, Mariotti, L, Baiocco, G, Nacci, L, Maccario, C, Rößler, U, Minelli, A, Savio, M, Gomolka, M, Kulka, U, Ottolenghi, A, Danesino, C
Published in Radiation protection dosimetry (01.09.2015)
Published in Radiation protection dosimetry (01.09.2015)
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Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis
Santoro, A, Cannella, S, Bossi, G, Gallo, F, Trizzino, A, Pende, D, Dieli, F, Bruno, G, Stinchcombe, J C, Micalizzi, C, De Fusco, C, Danesino, C, Moretta, L, Notarangelo, L D, Griffiths, G M, Aricò, M
Published in Journal of medical genetics (01.12.2006)
Published in Journal of medical genetics (01.12.2006)
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Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?
Gana, S, Sainati, L, Frau, M R, Monciotti, C, Poli, F, Cannioto, Z, Comelli, M, Danesino, C, Minelli, A
Published in Experimental and clinical endocrinology & diabetes (01.11.2011)
Published in Experimental and clinical endocrinology & diabetes (01.11.2011)
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Duplication of the Pituitary Stalk in a Patient with a Heterozygous Deletion of Chromosome 14 Harboring the Thyroid Transcription Factor-1 Gene
Accornero, S, Danesino, C, Bastianello, S, D'Errico, I, Guala, A, Chiovato, L
Published in The journal of clinical endocrinology and metabolism (01.08.2010)
Published in The journal of clinical endocrinology and metabolism (01.08.2010)
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Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?
Pichiecchio, A., Poloni, G.U., Ravaglia, S., Ponzio, M., Germani, G., Maranzana, D., Costa, A., Repetto, A., Tavazzi, E., Danesino, C., Moglia, A., Bastianello, S.
Published in Muscle & nerve (01.07.2009)
Published in Muscle & nerve (01.07.2009)
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Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis
Ravaglia, S., Danesino, C., Moglia, A., Costa, A., Cena, H., Maccarini, L., Carlucci, A., Pichiecchio, A., Bini, P., De Filippi, P., Rossi, M.
Published in European journal of neurology (01.07.2010)
Published in European journal of neurology (01.07.2010)
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Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene
ARICO, Maurizio, IMASHUKU, Shinsaku, CLEMENTI, Rita, HIBI, Shigeyoshi, TERAMURA, Tomoko, DANESINO, Cesare, HABER, Daniel A, NICHOLS, Kim E
Published in Blood (15.02.2001)
Published in Blood (15.02.2001)
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Enzyme replacement therapy in late-onset type II glycogenosis
Ravaglia, S., Moglia, A., Costa, A., Repetto, A., Danesino, C.
Published in European journal of neurology (01.07.2009)
Published in European journal of neurology (01.07.2009)
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