20022020

Research output per year

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Research Output

2020

A Multidimensional, Multisensory and Comprehensive Rehabilitation Intervention to Improve Spatial Functioning in the Visually Impaired Child: A Community Case Study

Morelli, F., Aprile, G., Cappagli, G., Luparia, A., Decortes, F., Gori, M. & Signorini, S., 2020, In : Frontiers in Neuroscience. 14, p. 768

Research output: Contribution to journalArticle

Standardized and Experimental Tools to Assess Spatial Cognition in Visually Impaired Children: A Mini-Review

Aprile, G., Cappagli, G., Morelli, F., Gori, M. & Signorini, S., 2020, In : Frontiers in Neuroscience. 14, p. 562589

Research output: Contribution to journalReview article

The Impact of Vision Loss on Allocentric Spatial Coding

Martolini, C., Cappagli, G., Luparia, A., Signorini, S. & Gori, M., Jun 16 2020, In : Frontiers in Neuroscience. 14, 565.

Research output: Contribution to journalArticle

Open Access

Visual Function Classification System for children with cerebral palsy: development and validation

VFCS Study Group, Jun 10 2020, In : Developmental Medicine and Child Neurology. 64, 1, p. 114-110 6 p.

Research output: Contribution to journalArticle

2018

Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT

Toma, C., Ruberto, G., Marzi, F., Vandelli, G., Signorini, S., Valente, E. M., Antonini, M., Bertone, C. & Bianchi, P. E., Jul 10 2018, (Accepted/In press) In : Documenta Ophthalmologica. p. 1-12 12 p.

Research output: Contribution to journalArticle

New insights into the phenotypic spectrum of 14q22q23 deletions

Pichiecchio, A., Vitale, G., Caporali, C., Parazzini, C., Milani, D., Recalcati, M. P., D'Amico, L., Signorini, S., Balottin, U. & Bastianello, S., Sep 29 2018, In : BMC Medical Genomics. 11, 1

Research output: Contribution to journalArticle

2017

Family-centred care for children and young people with cerebral palsy: results from an Italian multicenter observational study

Molinaro, A., Fedrizzi, E., Calza, S., Pagliano, E., Jessica, G., Fazzi, E., Trabacca, A., Vespino, T., Gallino, F., Villani, A., Picciolini, O., Cozzaglio, M., Pagliano, E., Baranello, G., Zambonin, F., Daniela, F., Mandalari, P., Mirabile, L., Nacinovich, R., Broggi, F. & 21 others, De Polo, G., Da Ruos, F., Cazzagon, M., Godio, M., Piantoni, C., Dusi, E., Marzaroli, M., Fusari, D., Arisi, D., Magri, S., Landi, N., Roberti, L., Signorini, S., Luparia, A., Sabbadini, M., Riccioli, N., Turconi, A. C., Molteni, F., Marcelli, M., Di Brina, C. & GIPCI Study Group, Jul 1 2017, In : Child: Care, Health and Development. 43, 4, p. 588-597 10 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, R., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M. M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., Dec 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, M., D’Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, M., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tuettelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., Dec 1 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

2016

Acquired Dandy-Walker malformation and cerebellar hemorrhage: Usefulness of serial MRI

Pichiecchio, A., Decio, A., Di Perri, C., Parazzini, C., Rossi, A. & Signorini, S., Jan 1 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 188-191 4 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E., Leuzzi, V., Valente, E. M. & Riva, D., Dec 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S. G., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E. S., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S. G., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E. S., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S. G., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E. S., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E., Leuzzi, V., Valente, E. M. & Riva, D., Dec 1 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

2014

A new scale for the assessment of performance and capacity of hand function in children with hemiplegic cerebral palsy: Reliability and validity studies

Rosa-Rizzotto, M., Visonà Dalla Pozza, L., Corlatti, A., Luparia, A., Marchi, A., Molteni, F., Facchin, P., Pagliano, E., Fedrizzi, E., Aguggiaro, V., Arnoldi, M. T., Banditori, M., Baranello, G., Bon, F., Bua, M., Castelli, M. V., Cerioli, M., Cazzagon, M., Di Brina, C., Dornini, C. & 36 others, Fazzi, E., Foscani, M., Fusari, D., Genovese, T., Germinasi, C., Giannarelli, P., Inverno, M., La Gamba, A., Loreti, V., Luati, G., Lucco, G., Maddalena, P., Madella Noja, A., Magagnin, B., Magri, S., Mandalari, P., Martinuzzi, A., Marzaroli, M., Megliani, C., Pezzani, M., Picciolini, O., Ranzato, C., Sartor, S., Setaro, A., Signorini, S., Stefanoni, G., Stortini, M., Tentori, M., Tornetta, L., Trabacca, A., Turconi, A. C., Vespino, T., Ambra, V. T. R., Fabio, Z., Zervas, T. & Zumaglini, U., Oct 1 2014, In : European Journal of Physical and Rehabilitation Medicine. 50, 5, p. 543-556 14 p.

Research output: Contribution to journalArticle

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani, M., Mancini, F., Micalizzi, A., Poretti, A., Miccinilli, E., Accorsi, P., Avola, E., Bertini, E., Borgatti, R., Romaniello, R., Ceylaner, S., Coppola, G., D’Arrigo, S., Giordano, L., Janecke, A. R., Lituania, M., Ludwig, K., Martorell, L., Mazza, T., Odent, S. & 13 others, Pinelli, L., Poo, P., Santucci, M., Signorini, S., Simonati, A., Spiegel, R., Stanzial, F., Steinlin, M., Tabarki, B., Wolf, N. I., Zibordi, F., Boltshauser, E. & Valente, E. M., 2014, In : Human Genetics. 134, 1, p. 123-126 4 p.

Research output: Contribution to journalArticle

2013

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Travaglini, L., Brancati, F., Silhavy, J., Iannicelli, M., Nickerson, E., Elkhartoufi, N., Scott, E., Spencer, E., Gabriel, S., Thomas, S., Ben-Zeev, B., Bertini, E., Boltshauser, E., Chaouch, M., Roberta Cilio, M., De Jong, M. M., Kayserili, H., Ogur, G., Poretti, A., Signorini, S. & 6 others, Uziel, G., Zaki, M. S., Johnson, C., Attié-Bitach, T., Gleeson, J. G. & Valente, E. M., Oct 2013, In : European Journal of Human Genetics. 21, 10, p. 1074-1078 5 p.

Research output: Contribution to journalArticle

2012

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to bardet-biedl syndrome

Estrada-Cuzcano, A., Koenekoop, R. K., Senechal, A., De Baere, E. B. W., De Ravel, T., Banfi, S., Kohl, S., Ayuso, C., Sharon, D., Hoyng, C. B., Hamel, C. P., Leroy, B. P., Ziviello, C., Lopez, I., Bazinet, A., Wissinger, B., Sliesoraityte, I., Avila-Fernandez, A., Littink, K. W., Vingolo, E. M. & 9 others, Signorini, S., Banin, E., Mizrahi-Meissonnier, L., Zrenner, E., Kellner, U., Collin, R. W. J., Den Hollander, A. I., Cremers, F. P. M. & Klevering, B. J., Nov 2012, In : Archives of Ophthalmology. 130, 11, p. 1425-1432 8 p.

Research output: Contribution to journalArticle

Neuro-ophthalmological disorders in cerebral palsy: Ophthalmological, oculomotor, and visual aspects

Fazzi, E., Signorini, S. G., La Piana, R., Bertone, C., Misefari, W., Galli, J., Balottin, U. & Bianchi, P. E., Aug 2012, In : Developmental Medicine and Child Neurology. 54, 8, p. 730-736 7 p.

Research output: Contribution to journalArticle

Septo-optic dysplasia in childhood: The neurological, cognitive and neuro-ophthalmological perspective

Signorini, S. G., Decio, A., Fedeli, C., Luparia, A., Antonini, M., Bertone, C., Misefari, W., Ruberto, G., Bianchi, P. E. & Balottin, U., Nov 2012, In : Developmental Medicine and Child Neurology. 54, 11, p. 1018-1024 7 p.

Research output: Contribution to journalArticle

2011

Molecular and clinical characterization of albinism in a large cohort of Italian patients

Gargiulo, A., Testa, F., Rossi, S., di Iorio, V., Fecarotta, S., de Berardinis, T., Iovine, A., Magli, A., Signorini, S., Fazzi, E., Galantuomo, M. S., Fossarello, M., Montefusco, S., Ciccodicola, A., Neri, A., Macaluso, C., Simonelli, F. & Surace, E. M., Mar 2011, In : Investigative Ophthalmology and Visual Science. 52, 3, p. 1281-1289 9 p.

Research output: Contribution to journalArticle

Multisite trial comparing the efficacy of constraint-induced movement therapy with that of bimanual intensive training in children with hemiplegic cerebral palsy: Postintervention results

Facchin, P., Rosa-Rizzotto, M., Dalla Pozza, L. V., Turconi, A. C., Pagliano, E., Signorini, S., Tornetta, L., Trabacca, A. & Fedrizzi, E., Jul 2011, In : American Journal of Physical Medicine and Rehabilitation. 90, 7, p. 539-553 15 p.

Research output: Contribution to journalArticle

Reach on sound: A key to object permanence in visually impaired children

Fazzi, E., Signorini, S. G., Bomba, M., Luparia, A., Lanners, J. & Balottin, U., Apr 2011, In : Early Human Development. 87, 4, p. 289-296 8 p.

Research output: Contribution to journalArticle

2010

Epilessia in amaurosi congenita di Leber e alterazione della via visiva riconoscibile solo con DTI

Translated title of the contribution: Epilepsy in Leber Congenital Amaurosis and visual pathway alteration detectable only with DTITeutonico, F., Veggiotti, P., Fazzi, E., Uggetti, C., Signorini, S., Bastianello, S., Fasce, M. & Balottin, U., Apr 2010, In : Bollettino - Lega Italiana contro l'Epilessia. 140, p. 224-225 2 p.

Research output: Contribution to journalArticle

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, N. V., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In : Human Mutation. 31, 5

Research output: Contribution to journalArticle

2009

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia

Fazzi, E., Bova, S., Giovenzana, A., Signorini, S., Uggetti, C. & Bianchi, P., 2009, In : Developmental Medicine and Child Neurology. 51, 12, p. 974-981 8 p.

Research output: Contribution to journalArticle

Expanding CEP290 mutational spectrumin ciliopathies

Travaglini, L., Brancati, F., Attie-Bitach, T., Audollent, S., Bertini, E., Kaplan, J., Perrault, I., Iannicelli, M., Mancuso, B., Rigoli, L., Rozet, J. M., Swistun, D., Tolentino, J., Dallapiccola, B., Gleeson, J. G., Valente, E. M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A. & 147 others, D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M. A., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C. D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M. R., Di Sabato, M. L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Sabolic Avramovska, V., De Jong, M. M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., Oct 2009, In : American Journal of Medical Genetics, Part A. 149, 10, p. 2173-2180 8 p.

Research output: Contribution to journalArticle

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati, F., Iannicelli, M., Travaglini, L., Mazzotta, A., Bertini, E., Boltshauser, E., D'Arrigo, S., Emma, F., Fazzi, E., Gallizzi, R., Gentile, M., Loncarevic, D., Mejaski-Bosnjak, V., Pantaleoni, C., Rigoli, L., Salpietro, C. D., Signorini, S., Stringini, G. R., Verloes, A., Zabloka, D. & 3 others, Dallapiccola, B., Gleeson, J. G. & Valente, E. M., Feb 2009, In : Human Mutation. 30, 2

Research output: Contribution to journalArticle

2008

Neurodevelopmental evolution of West syndrome: A 2-year prospective study

Guzzetta, F., Cioni, G., Mercuri, E., Fazzi, E., Biagioni, E., Veggiotti, P., Bancale, A., Baranello, G., Epifanio, R., Frisone, M. F., Guzzetta, A., La Torre, G., Mannocci, A., Randò, T., Ricci, D., Signorini, S. & Tinelli, F., Sep 2008, In : European Journal of Paediatric Neurology. 12, 5, p. 387-397 11 p.

Research output: Contribution to journalArticle

Recovery of visual functions after early acquired occipital damage

Bova, S. M., Giovenzana, A., Signorini, S., La Piana, R., Uggetti, C., Bianchi, P. E. & Fazzi, E., Apr 2008, In : Developmental Medicine and Child Neurology. 50, 4, p. 311-315 5 p.

Research output: Contribution to journalArticle

Sleep disturbances in visually impaired toddlers

Fazzi, E., Zaccagnino, M., Gahagan, S., Capsoni, C., Signorini, S., Ariaudo, G., Lanners, J. & Orcesi, S., Oct 2008, In : Brain and Development. 30, 9, p. 572-578 7 p.

Research output: Contribution to journalArticle

2007

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, E., Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R. & 114 others, Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., Moreira, A., Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, R., Cilio, M. R., Di Sabato, M., Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P. & Swoboda, K. J., Jul 2007, In : American Journal of Human Genetics. 81, 1, p. 104-113 10 p.

Research output: Contribution to journalArticle

Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients

Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, E., Bianchi, P. E., Fossarello, M., Signorini, S., Bertone, C., Galantuomo, S., Brancati, F., Valente, E. M., Ciccodicola, A., Rinaldi, E., Auricchio, A. & Banfi, S., Sep 2007, In : Investigative Ophthalmology and Visual Science. 48, 9, p. 4284-4290 7 p.

Research output: Contribution to journalArticle

Leber's congenital amaurosis: Is there an autistic component?

Fazzi, E., Rossi, M., Signorini, S., Rossi, G., Bianchi, P. E. & Lanzi, G., Jul 2007, In : Developmental Medicine and Child Neurology. 49, 7, p. 503-507 5 p.

Research output: Contribution to journalArticle

Spectrum of visual disorders in children with cerebral visual impairment

Fazzi, E., Signorini, S. G., Bova, S. M., La Piana, R., Ondei, P., Bertone, C., Misefari, W. & Bianchi, P. E., Mar 2007, In : Journal of Child Neurology. 22, 3, p. 294-301 8 p.

Research output: Contribution to journalArticle

The development of visual object recognition in school-age children

Bova, S. M., Fazzi, E., Giovenzana, A., Montomoli, C., Signorini, S. G., Zoppello, M. & Lanzi, G., 2007, In : Developmental Neuropsychology. 31, 1, p. 79-102 24 p.

Research output: Contribution to journalArticle

2006

Auditory attention at the onset of West syndrome: Correlation with EEG patterns and visual function

Baranello, G., Randò, T., Bancale, A., D'Acunto, M. G., Epifanio, R., Frisone, M. F., Guzzetta, A., La Torre, G., Mannocci, A., Ricci, D., Signorini, S., Tinelli, F., Biagioni, E., Veggiotti, P., Fazzi, E., Mercuri, E., Cioni, G. & Guzzetta, F., Jun 2006, In : Brain and Development. 28, 5, p. 293-299 7 p.

Research output: Contribution to journalArticle

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., Fazzi, E., Signorini, S., Louie, C. M., Bellacchio, E., Bertini, E., Dallapiccola, B. & Gleeson, J. G., Jun 2006, In : Nature Genetics. 38, 6, p. 623-625 3 p.

Research output: Contribution to journalArticle

Randì et al. reply [2]

Randò, T., Baranello, G., Ricci, D., Guzetta, A., Tinelli, F., Biagioni, E., La Torre, G., Epifanio, R., Signorini, S., Fazzi, E., Mercuri, E., Cioni, G. & Guzzetta, F., Nov 2006, In : Developmental Medicine and Child Neurology. 48, 11, p. 942-943 2 p.

Research output: Contribution to journalArticle

2005

Cognitive competence at the onset of West syndrome: Correlation with EEG patterns and visual function

Randò, T., Baranello, G., Ricci, D., Guzzetta, A., Tinelli, F., Biagioni, E., La Torre, G., Epifanio, R., Signorini, S., Fazzi, E., Mercuri, E., Cioni, G. & Guzzetta, F., Nov 2005, In : Developmental Medicine and Child Neurology. 47, 11, p. 760-765 6 p.

Research output: Contribution to journalArticle

Early intervention in visually impaired children

Fazzi, E., Signorini, S. G., Bova, S. M., Ondei, P. & Bianchi, P. E., Sep 2005, In : International Congress Series. 1282, p. 117-121 5 p.

Research output: Contribution to journalArticle

Neurobehavioral adaptations in cerebral visual impairment

Signorini, S. G., Bova, S. M., La Piana, R., Bianchi, P. E. & Fazzi, E., Sep 2005, In : International Congress Series. 1282, p. 724-728 5 p.

Research output: Contribution to journalArticle