Visual impairment in FOXG1 -mutated individuals and mice
Boggio, E.M, Pancrazi, L, Gennaro, M, Lo Rizzo, C, Mari, F, Meloni, I, Ariani, F, Panighini, A, Novelli, E, Biagioni, M, Strettoi, E, Hayek, J, Rufa, A, Pizzorusso, T, Renieri, A, Costa, M
Published in Neuroscience (02.06.2016)
Published in Neuroscience (02.06.2016)
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Ataxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings
Bargagli, A., Rosini, F., Zanca, D., Serchi, V., Rufa, A.
Published in Neurological sciences (01.07.2021)
Published in Neurological sciences (01.07.2021)
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New insights in Neanderthal palaeoecology using stable oxygen isotopes preserved in small mammals as palaeoclimatic tracers in Teixoneres Cave (Moià, northeastern Iberia)
Fernández-García, M., López-García, J. M., Royer, A., Lécuyer, C., Rivals, F., Rufà, A., Blasco, R., Rosell, J.
Published in Archaeological and anthropological sciences (01.06.2022)
Published in Archaeological and anthropological sciences (01.06.2022)
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AARS2‐related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
Taglia, I., Di Donato, I., Bianchi, S., Cerase, A., Monti, L., Marconi, R., Orrico, A., Rufa, A., Federico, A., Dotti, M. T.
Published in Acta neurologica Scandinavica (01.10.2018)
Published in Acta neurologica Scandinavica (01.10.2018)
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Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis
Pretegiani, E., Rosini, F., Federighi, P., Cerase, A., Dotti, M. T., Rufa, A.
Published in European journal of neurology (01.06.2015)
Published in European journal of neurology (01.06.2015)
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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families
Pretegiani, E., Rosini, F., Rufa, A., Gallus, G.N., Cardaioli, E., Da Pozzo, P., Bianchi, S., Serchi, V., Collura, M., Franceschini, R., Bianchi Marzoli, S., Dotti, M.T., Federico, A.
Published in Journal of the neurological sciences (15.11.2017)
Published in Journal of the neurological sciences (15.11.2017)
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Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias
FEDERIGHI, Pamela, CEVENINI, Gabriele, DOTTI, Maria T, ROSINI, Francesca, PRETEGIANI, Elena, FEDERICO, Antonio, RUFA, Alessandra
Published in Brain (London, England : 1878) (01.03.2011)
Published in Brain (London, England : 1878) (01.03.2011)
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Eye movement abnormalities in a patient with Zellweger spectrum disorder
Rosini, F., Vinciguerra, C., Mignarri, A., Di Giovanni, M., Federico, A., Rufa, A.
Published in Neurological sciences (01.06.2016)
Published in Neurological sciences (01.06.2016)
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Nonlinear analysis of saccade speed fluctuations during combined action and perception tasks
Stan, C., Astefanoaei, C., Pretegiani, E., Optican, L., Creanga, D., Rufa, A., Cristescu, C.P.
Published in Journal of neuroscience methods (30.07.2014)
Published in Journal of neuroscience methods (30.07.2014)
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Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene
Di Giovanni, M., Poggiani, A., Bianchi, S., Rosini, F., Rufa, A., Federico, A.
Published in Neurological sciences (01.01.2016)
Published in Neurological sciences (01.01.2016)
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Journal Article
Oculomotor changes in multiple system atrophy: Clinical, MRI and laboratory features in eight patients
Rosini, F, Federighi, P, Pretegiani, E, Giannini, F, Federico, A, Rufa, A
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
Four novel CYP27A1 mutations in seven Italian patients with CTX
Gallus, G. N., Dotti, M. T., Mignarri, A., Rufa, A., Da Pozzo, P., Cardaioli, E., Federico, A.
Published in European journal of neurology (01.10.2010)
Published in European journal of neurology (01.10.2010)
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Journal Article
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
Taglia, I., Di Donato, I., Bianchi, S., Cerase, A., Monti, L., Marconi, R., Orrico, A., Rufa, A., Federico, A., Dotti, M. T.
Published in Acta neurologica Scandinavica (01.10.2018)
Published in Acta neurologica Scandinavica (01.10.2018)
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Three new mutations in CSF1R gene in 3 Italian patients with hereditary diffuse leukoencephalopathy with axonal spheroids
Di Donato, I, Bianchi, S, Taglia, I, Gallus, G.N, Stabile, C, Battisti, C, Rufa, A, Dotti, M.T, Federico, A
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
Photophobia and bilateral pulvinar involvement in non-alcoholic Wernicke’s encephalopathy
Rosini, F., Cerase, A., Pretegiani, E., Lucii, G., Federighi, P., Federico, A., Rufa, A.
Published in Neurological sciences (01.10.2013)
Published in Neurological sciences (01.10.2013)
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Two new heterozygous mutations of Htra1 gene in a Caucasian patient affected by CARASIL
Bianchi, S, Di Palma, C, Gallus, G.N, Taglia, I, Poggiani, A, Rosini, F, Cerase, A, Rufa, A, Muresanu, D, Dotti, M.T
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy
Gallus, GN, Cardaioli, E, Rufa, A, Collura, M, Da Pozzo, P, Pretegiani, E, Tumino, M, Pavone, L, Federico, A
Published in Clinical genetics (01.09.2012)
Published in Clinical genetics (01.09.2012)
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Wernicke Encephalopathy After Gastrointestinal Surgery for Cancer: Causes of Diagnostic Failure or Delay
Rufa, A., Rosini, F., Cerase, A., Giannini, F., Pretegiani, E., Buccoliero, R., Dotti, M. T., Federico, A.
Published in International journal of neuroscience (01.04.2011)
Published in International journal of neuroscience (01.04.2011)
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