• 1401 Citations
  • 20 h-Index
20022019
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Research Output 2002 2019

  • 1401 Citations
  • 20 h-Index
  • 53 Article
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Article
2019
Cerebral Palsy
Aptitude
Confidence Intervals
Reproducibility of Results
Research
2018
4 Citations (Scopus)
Movement Disorders
Genetic Markers
Microcephaly
Sequence Deletion
Brain

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

Nuovo, S., Fuiano, L., Micalizzi, A., Battini, R., Bertini, E., Borgatti, R., Caridi, G., D'Arrigo, S., Fazzi, E., Fischetto, R., Ghiggeri, G. M., Giordano, L., Leuzzi, V., Romaniello, R., Signorini, S., Stringini, G., Zanni, G., Romani, M., Valente, E. M. & Emma, F., Nov 6 2018, In : Nephrology Dialysis Transplantation.

Research output: Contribution to journalArticle

Chronic Renal Insufficiency
Disease Progression
Osmolar Concentration
Kidney
Urine
Retinal Dystrophies
Optical Coherence Tomography
Visual Evoked Potentials
Siblings
Genes
2 Citations (Scopus)

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

Retinal Dystrophies
Optical Coherence Tomography
Visual Evoked Potentials
Siblings
Genes

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

Anophthalmos
Microphthalmos
Posterior Cranial Fossa
Mutation
Corpus Callosum
2017
4 Citations (Scopus)

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

Cerebral Palsy
Child Care
Multicenter Studies
Observational Studies
Parents
7 Citations (Scopus)

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
Malformations of Cortical Development
Neuroimaging
Genes
Cysts
7 Citations (Scopus)

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
Malformations of Cortical Development
Neuroimaging
Genes
Cysts
7 Citations (Scopus)

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
6 Citations (Scopus)

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

Dandy-Walker Syndrome
Neuroimaging
Hemorrhage
Fourth Ventricle
Hemosiderosis

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

Intellectual Disability
Communication
Phenotype
Aptitude
Socialization
4 Citations (Scopus)

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

Intellectual Disability
Communication
Phenotype
Aptitude
Socialization

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

Intellectual Disability
Communication
Phenotype
Aptitude
Socialization

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

Intellectual Disability
Communication
Phenotype
Aptitude
Socialization

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

Intellectual Disability
Communication
Phenotype
Aptitude
Socialization
2014
10 Citations (Scopus)

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

Cerebral Palsy
Reproducibility of Results
Hand
Activities of Daily Living
Psychometrics
12 Citations (Scopus)

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

Genes
Polydactyly
Phenotype
Mutation
Hamartoma
2013
30 Citations (Scopus)

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

Mutation
Fetus
Coloboma
Patient Advocacy
Rhombencephalon
2012
56 Citations (Scopus)

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

Bardet-Biedl Syndrome
Retinitis Pigmentosa
Phenotype
Mutation
Patient Acuity
71 Citations (Scopus)

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

Cerebral Palsy
Vision Disorders
Visual Acuity
Quadriplegia
Hemiplegia
23 Citations (Scopus)

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

Septo-Optic Dysplasia
Nervous System
Aftercare
Pituitary Hormones
Neurologic Examination
2011
33 Citations (Scopus)

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

Albinism
Mutation
Eye Manifestations
Pigmentation
Genes
34 Citations (Scopus)
Cerebral Palsy
Activities of Daily Living
Upper Extremity
Therapeutics
Rehabilitation
10 Citations (Scopus)

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

Disabled Children
Cohort Studies
Outcome Assessment (Health Care)
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

Leber Congenital Amaurosis
Visual Pathways
Epilepsy
Blindness
Retrograde Degeneration
43 Citations (Scopus)

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

Genotype
Phenotype
Mutation
Exons
Fetus
2009
95 Citations (Scopus)

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

Periventricular Leukomalacia
Magnetic Resonance Spectroscopy
Intelligence
Brain
Neuropsychology
24 Citations (Scopus)

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

Leber Congenital Amaurosis
Mutation
Cilia
Genes
Exons
62 Citations (Scopus)

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

Mutation
Liver
Genes
Coloboma
Rhombencephalon
2008
13 Citations (Scopus)

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

Infantile Spasms
varespladib methyl
Spasm
Prospective Studies
Sleep
11 Citations (Scopus)

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

Recovery of Function
Vision Disorders
Visual Fields
Visual Acuity
Brain
10 Citations (Scopus)

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

Sleep
Vision Disorders
Neurology
Italy
Parents
2007
87 Citations (Scopus)

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

Kidney
Mutation
Eye Manifestations
Situs Inversus
Rhombencephalon
89 Citations (Scopus)

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 Congenital Amaurosis
Multicenter Studies
Molecular Biology
Mutation
Optical Coherence Tomography
16 Citations (Scopus)

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

Leber Congenital Amaurosis
Autistic Disorder
Vision Disorders
Child Behavior
Blindness
74 Citations (Scopus)

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

Vision Disorders
Contrast Sensitivity
Visual Fields
Visual Acuity
Fundus Oculi
29 Citations (Scopus)

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

Aptitude
Neuropsychological Tests
Color
Population
2006
4 Citations (Scopus)

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

Infantile Spasms
Electroencephalography
Spasm
Mental Competency
Sensation Disorders
20 Citations (Scopus)
Vision Disorders
Optic Disk
Nerve Fibers
General Anesthesia
Atrophy
255 Citations (Scopus)

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

Centrosome
Brain Stem
Tooth
Kidney
Neurons

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
15 Citations (Scopus)

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

Infantile Spasms
Mental Competency
Electroencephalography
Spasm
Aptitude
23 Citations (Scopus)

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

Visual Pathways
Vision Disorders
Occipital Lobe
Eye Diseases
Nervous System Diseases
6 Citations (Scopus)

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

Vision Disorders
Visual Acuity
Visual Perception
Visual Pathways
Eye Diseases
21 Citations (Scopus)

Towards improved clinical characterization of leber congenital amaurosis: Neurological and systemic findings

Fazzi, E., Signorini, S. G., Uggetti, C., Bianchi, P. E., Lanners, J. & Lanzi, G., Jan 1 2005, In : American Journal of Medical Genetics. 132 A, 1, p. 13-19 7 p.

Research output: Contribution to journalArticle

Leber Congenital Amaurosis
Neurologic Examination
Eye Manifestations
Retinal Dystrophies
Kidney
2004
10 Citations (Scopus)

Topiramate efficacy in an infant with partial seizures refractory to conventional antiepileptic drugs

Veggiotti, P., Longaretti, F., Signorini, S., Cardinali, S. & Lanzi, G., Jun 2004, In : Seizure. 13, 4, p. 241-243 3 p.

Research output: Contribution to journalArticle

Anticonvulsants
Seizures
Pharmaceutical Preparations
Electroencephalography
Epilepsy
20 Citations (Scopus)

Visual function in infants with West syndrome: Correlation with EEG patterns

Randò, T., Bancale, A., Baranello, G., Bini, M., De Belvis, A. G., Epifanio, R., Frisone, M. F., Guzzetta, A., La Torre, G., Ricci, D., Signorini, S., Tinelli, F., Biagioni, E., Veggiotti, P., Mercuri, E., Fazzi, E., Cioni, G. & Guzzetta, F., Jul 2004, In : Epilepsia. 45, 7, p. 781-786 6 p.

Research output: Contribution to journalArticle

Infantile Spasms
Electroencephalography
Vision Disorders
Brain
Spasm
84 Citations (Scopus)

Visual-perceptual impairment in children with periventricular leukomalacia

Fazzi, E., Bova, S. M., Uggetti, C., Signorini, S. G., Bianchi, P. E., Maraucci, I., Zoppello, M. & Lanzi, G., Dec 2004, In : Brain and Development. 26, 8, p. 506-512 7 p.

Research output: Contribution to journalArticle

Periventricular Leukomalacia
Visual Perception
Vision Disorders
Cerebral Palsy
Upper Extremity