Pretegiani E, Piu P, Rosini F, Pamela Federighi, Serchi V, Tumminelli G, Dotti MT, Federico A, Rufa A. “Antisaccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions“, (2018) Frontiers in Neurology, section Neuro-Ophthalmology.
Federighi P, Ramat S, Rosini F, Pretegiani E, Federico A, Rufa A. “Characteristic eye movements in Ataxia-Telangiectasia-Like disorder: an explanatory hypothesis”, (2017) Frontiers in Neurology 8:596.
Pretegiani E, Rosini F, Federico A, Optican LM, Rufa A. ″Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9 and manganese network″, (2017) Clinical Neurophysiology, 128 (12), pp. 2450-53.
Pretegiani E, Rosini F, Rufa A, Gallus GN, Cardaioli E, Da Pozzo P, Bianchi S, Serchi V, Collura M, Franceschini R, Bianchi Marzoli S, Dotti MT, Federico A. “Genotype-Phenotype and OCT correlation in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: report of 13 Italian families“, (2017) Journal of the Neurological Sciences, 382, pp. 29–35.
Rosini, F., Bennett, D., Cerase, A., Volterrani, L., Federico, A., Rottoli, P., Rufa, A., “Cavernous sinus syndrome due to neurosarcoidosis in adolescence: a diagnosis not to be missed”, (2017) Neurological Sciences, 38 (3), pp. 517-519.
Rosini, F., Serchi, V., Tirelli, L., Di Toro Mammarella, L., Pucci, B., Federico, A., Rufa, A., “Progression of oculomotor deficit in a patient with posterior cortical atrophy”, (2017) Journal of the Neurological Sciences, 372, pp. 459-463.
Rosini, F., Pretegiani E, Mignarri A, Optican LM, Serchi V, De Stefano N, Battaglini M, Monti L, Dotti MT, Federico A, Rufa A., “The role of dentate nuclei in human oculomotor control: insights from Cerebrotendinous Xanthomatosis“, (2017) J Physiol, 595(11):3607-3620.
Da Pozzo, P., Cardaioli, E., Rubegni, A., Gallus, G.N., Malandrini, A., Rufa, A., Battisti, C., Carluccio, M.A., Rocchi, R., Giannini, F., Bianchi, A., Mancuso, M., Siciliano, G., Dotti, M.T., Federico, A., “Novel POLG mutations and variable clinical phenotypes in 13 Italian patients”, (2017) Neurological Sciences, 38 (4), pp. 563-570.
Pretegiani, E., Rosini, F., Rocchi, R., Ginanneschi, F., Vinciguerra, C., Optican, L.M., Rufa, A., “GABAAergic dysfunction in the olivary-cerebellar-brainstem network may cause eye oscillations and body tremor”, (2017) Clinical Neurophysiology, 128 (3), pp. 408-410.
Di Donato, I., Bianchi, S., De Stefano, N., Dichgans, M., Dotti, M.T., Duering, M., Jouvent, E., Korczyn, A.D., Lesnik-Oberstein, S.A.J., Malandrini, A., Markus, H.S., Pantoni, L., Penco, S., Rufa, A., Sinanović, O., Stojanov, D., Federico, A., “Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects”, (2017) BMC Medicine, 15 (1).
Tirelli, L., Rosini, F., Rufa, A., Garosi, G., Cerase, A., Federico, A., De Luca, A., “Clinical and MRI improvement in a case of Progressive Multifocal Leukoencephalopathy”, (2017) Neurol Sci. doi: 10.1007/s10072-017-2914-9.
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., “Visual impairment in FOXG1-mutated individuals and mice”, (2016) Neuroscience, 324, pp. 496-508.
Rosini, F., Vinciguerra, C., Mignarri, A., Di Giovanni, M., Federico, A., Rufa, A., “Eye movement abnormalities in a patient with Zellweger spectrum disorder”, (2016) Neurological Sciences, 37 (6), pp. 1013-1015
Di Giovanni, M., Poggiani, A., Bianchi, S., Rosini, F., Rufa, A., Federico, A., “Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene”, (2016) Neurological Sciences, 37 (1), pp. 143-145.
Fallerini, C., Carignani, G., Capoccitti, G., Federico, A., Rufa, A., Pinto, A.M., Rizzo, C.L., Rossi, A., Mari, F., Mencarelli, M.A., Giannini, F., Renieri, A., “Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology”, (2015) Journal of the Neurological Sciences, 359 (1-2), pp. 409-417.
Da Pozzo, P., Rubegni, A., Rufa, A., Cardaioli, E., Taglia, I., Gallus, G.N., Malandrini, A., Federico, A., “Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?”, (2015) Neurological Sciences, 36 (9), pp. 1713-1715.
Formichi, P., Radi, E., Giorgi, E., Gallus, G.N., Brunetti, J., Battisti, C., Rufa, A., Dotti, M.T., Franceschini, R., Bracci, L., Federico, A., “Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene”, (2015) Journal of the Neurological Sciences, 351 (1-2), pp. 99-108.
Tumminelli, G., Di Donato, I., Guida, V., Rufa, A., De Luca, A., Federico, A., “Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene”. (2015) Journal of Alzheimer’s Disease, 49 (1), pp. 27-30.
Pretegiani, E., Astefanoaei, C., Daye, P.M., Fitzgibbon, E.J., Creanga, D.-E., Rufa, A., Optican, L.M., “Action and perception are temporally coupled by a common mechanism that leads to a timing misperception”, (2015) Journal of Neuroscience, 35 (4), pp. 1493-1504.
Pretegiani, E., Rosini, F., Federighi, P., Cerase, A., Dotti, M.T., Rufa, A., “Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis”, (2015) European Journal of Neurology, 22 (6), pp. e67-e69.
Vinciguerra, C., Federighi, P., Rosini, F., Pretegiani, E., Cardaioli, E., Dotti, M.T., Sicurelli, F., Federico, A., Rufa, A., “Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy”, (MNGIE) (2015) Journal of the Neurological Sciences, 350 (1-2), pp. 107-109.
Rufa, A., Rosini, F., “Gastrointestinal Surgery and Wernicke Encephalopathy”, (2014) Diet and Nutrition in Dementia and Cognitive Decline, pp. 539-549.
Stan, C., Astefanoaei, C., Pretegiani, E., Optican, L., Creanga, D., Rufa, A., Cristescu, C.P., “Nonlinear analysis of saccade speed fluctuations during combined action and perception tasks” (2014) Journal of Neuroscience Methods, 232, pp. 102-109.
Bianchi, S., Di Palma, C., Gallus, G.N., Taglia, I., Poggiani, A., Rosini, F., Rufa, A., Muresanu, D.F., Cerase, A., Dotti, M.T., Federico, A., “Two novel htra1 mutations in a european carasil patient” (2014) Neurology, 82 (10), pp. 898-900.
Piu, P., Fargnoli, F., Innocenti, A., Rufa, A., “A Two-layered diffusion model traces the dynamics of information processing in the valuation-and-choice circuit of decision making”, (2014) Computational Intelligence and Neuroscience.
Cerase, A., Vallone, I.M., Rufa, A., Leonini, S., “Pseudo-intraventricular hemorrhage from a deep calcarine fissure”, (2014) Surgical and Radiologic Anatomy, 36 (6), pp. 601-603.
Veneri, G., Federico, A., Rufa, A., “Evaluating the influence of motor control on selective attention through a stochastic model: The paradigm of motor control dysfunction in cerebellar patient”, (2014) BioMed Research International.
Rosini, F., Rufa, A., Monti, L., Tirelli, L., Federico, A., “Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism”, (2014) Journal of Neurology, 261 (12), pp. 2446-2448.
Aştefănoaei, C., Creangă, D., Pretegiani, E., Optican, L.M., Rufa, A., “Dynamical complexity analysis of saccadic eye movements in two different psychological conditions”, (2014) Romanian Reports in Physics, 66 (4), pp. 1038-1055.
Vinciguerra, C., Rufa, A., Bianchi, S., Sperduto, A., De Santis, M., Malandrini, A., Dotti, M.T., Federico, A. “Homozygosity and severity of phenotypic presentation in a CADASIL family” (2014) Neurological Sciences, 35 (1), pp. 91-93.
Veneri, G., Pretegiani, E., Fargnoli, F., Rosini, F., Vinciguerra, C., Federighi, P., Federico, A., Rufa, A., “Spatial ranking strategy and enhanced peripheral vision discrimination optimize performance and efficiency of visual sequential search”, (2014) European Journal of Neuroscience, 40 (5), pp. 2833-2841.
Battisti, C., Di Donato, I., Bianchi, S., Monti, L., Formichi, P., Rufa, A., Taglia, I., Cerase, A., Dotti, M.T., Federico, A., “Hereditary diffuse leukoencephalopathy with axonal spheroids: Three patients with stroke-like presentation carrying new mutations in the CSF1R gene”, (2014) Journal of Neurology, 261 (4), pp. 768-772.
Mignarri, A., Tessa, A., Carluccio, M.A., Rufa, A., Storti, E., Bonelli, G., Marcotulli, C., Santorelli, F.M., Leonardi, L., Casali, C., Federico, A., Dotti, M.T., “Cerebellum and neuropsychiatric disorders: Insights from ARSACS”, (2014) Neurological Sciences, 35 (1), pp. 95-97.
Aştefǎnoaei, C., Creangǎ, D.E., Pretegiani, E., Optican, L.M., Rufa, A., “Shuffled data in the investigation of complex dynamics of the neuromotor saccadic system”, (2014) E-Health and Bioengineering Conference, EHB.
Piu, P., Fargnoli, F., Rufa, A., “Gaze bias reveals different cognitive processes in decision-making under uncertainty”, (2013) Neuroscience and the Economics of Decision Making, pp. 54-70.
Aştefǎnoaei, C., Creangǎ, D.E., Pretegiani, E., Optican, L.M., Rufa, A., “Fourier and wavelet transformation of eye movement temporal series”, (2013) E-Health and Bioengineering Conference, EHB.
Rosini, F., Pretegiani, E., Guideri, F., Cerase, A., Rufa, A., “Eight and a half syndrome with hemiparesis and hemihypesthesia: The nine syndrome?”, (2013) Journal of Stroke and Cerebrovascular Diseases, 22 (8), pp. e637-e638.
Palmeri, S., Rufa, A., Pucci, B., Santarnecchi, E., Malandrini, A., Laura Stromillo, M., Mandalà, M., Rosini, F., De Stefano, N., Federico, A., “Clinical course of two italian siblings with ataxia-telangiectasia-like disorder”, (2013) Cerebellum, 12 (4), pp. 596-599.
Rosini, F., Federighi, P., Pretegiani, E., Piu, P., Leigh, R.J., Serra, A., Federico, A., Rufa, A., “Ocular-Motor Profile and Effects of Memantine in a Familial Form of Adult Cerebellar Ataxia with Slow Saccades and Square Wave Saccadic Intrusions”, (2013) PLoS ONE, 8 (7).
Rosini, F., Cerase, A., Pretegiani, E., Lucii, G., Federighi, P., Federico, A., Rufa, A., “Photophobia and bilateral pulvinar involvement in non-alcoholic Wernicke’s encephalopathy”, (2013) Neurological Sciences, 34 (10), pp. 1867-1869.
Mignarri, A., Chini, E., Rufa, A., Rocchi, R., Federico, A., Dotti, M.T., “Lithium neurotoxicity mimicking rapidly progressive dementia”, (2013) Journal of Neurology, 260 (4), pp. 1152-1154.
Pretegiani, E., Rosini, F., Dotti, M.T., Bianchi, S., Federico, A., Rufa, A., “Visual system involvement in CADASIL”, (2013) Journal of Stroke and Cerebrovascular Diseases, 22 (8), pp. 1377-1384.
Veneri, G., Pretegiani, E., Rosini, F., Federighi, P., Federico, A., Rufa, A., “Evaluating the human ongoing visual search performance by eye tracking application and sequencing tests”, (2012) Computer Methods and Programs in Biomedicine, 107 (3), pp. 468-477.
Gallus, G., Cardaioli, E., Rufa, A., Collura, M., Da Pozzo, P., Pretegiani, E., Tumino, M., Pavone, L., Federico, A., “High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy”, (2012) Clinical Genetics, 82 (3), pp. 277-282.
Pretegiani, E., Rosini, F., Donati, D., Rufa, A., Moschettini, D., Cerase, A., Morucci, A., Annunziata, P., Federico, A., “Idiopathic bilateral facial palsy: Is a causative role of anti-GM1 ganglioside and herpes simplex type 1 possible?”, (2012) Neurological Sciences, 33 (4), pp. 951-953.
Salsano, E., Umeh, C., Rufa, A., Pareyson, D., Zee, D.S., “Vertical supranuclear gaze palsy in Niemann-Pick type C disease”, (2012) Neurological Sciences, 33 (6), pp. 1225-1232.
Marino, D., Vatti, G., Rufa, A., Malandrini, A., Rocchi, R., Bracco, S., Buccoliero, R., Federico, A., “Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting”, (2012) Epileptic Disorders, 14 (1), pp. 85-89.
Veneri, G., Rosini, F., Federighi, P., Federico, A., Rufa, A., “Evaluating gaze control on a multi-target sequencing task: The distribution of fixations is evidence of exploration optimization”, (2012) Computers in Biology and Medicine, 42 (2), pp. 235-244.
Piu, P., Fargnoli, F., Rufa, A., “Gaze bias reveals different cognitive processes in decision making under uncertainty”, (2012) Neuroscience and the Economics of Decision Making (Routledge Advances in Experimental and Computable Economics, London).
Rufa, A., Federighi, P., “Fast versus slow: Different saccadic behavior in cerebellar ataxias”, (2011) Annals of the New York Academy of Sciences, 1233 (1), pp. 148-154.
Cardaioli, E., Malfatti, E., Da Pozzo, P., Gallus, G.N., Carluccio, M.A., Rufa, A., Volpi, N., Dotti, M.T., Federico, A., “Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene”, (2011) Journal of the Neurological Sciences, 303 (1-2), pp. 142-145.
Rufa, A., Rosini, F., Cerase, A., Giannini, F., Pretegiani, E., Buccoliero, R., Dotti, M.T., Federico, A., “Wernicke encephalopathy after gastrointestinal surgery for cancer: Causes of diagnostic failure or delay”, (2011) International Journal of Neuroscience, 121 (4), pp. 201-208.
Veneri, G., Federighi, P., Rosini, F., Federico, A., Rufa, A., “Spike removal through multiscale wavelet and entropy analysis of ocular motor noise: A case study in patients with cerebellar disease”, (2011) Journal of Neuroscience Methods, 196 (2), pp. 318-326.
Federighi, P., Cevenini, G., Dotti, M.T., Rosini, F., Pretegiani, E., Federico, A., Rufa, A., “Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias” (2011) Brain, 134 (3), pp. 879-891.
Cerase, A., Rubenni, E., Rufa, A., Vallone, I., Galluzzi, P., Coratti, G., Franchi, F., Giannini, F., Venturi, C., “CT and MRI of Wernicke’s encephalopathy”, (2011) Radiologia Medica, 116 (2), pp. 319-333.
Pretegiani, E., Rufa, A., Gallus, G.N., Cardaioli, E., Malandrini, A., Federico, A., “Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation”, (2011) Brain, 134 (11).
Veneri, G., Piu, P., Rosini, F., Federighi, P., Federico, A., Rufa, A., “Automatic eye fixations identification based on analysis of variance and covariance”, (2011) Pattern Recognition Letters 32, 1588–1593.
Veneri, G., Pretegiani, E., Federighi, P., Rosini, F., Federico, A., Rufa, A., “Evaluating human visual search performance by Monte Carlo methods and heuristic model”, (2010) Proceedings of the IEEE/EMBS Region 8 International Conference on Information Technology Applications in Biomedicine, ITAB, art. no. 5687697.
Rufa, A., Pretegiani, E., Frezzotti, P., De Stefano, N., Cevenini, G., Dotti, M.T., Federico, A., “Retinal nerve fiber layer thinning in CADASIL: An optical coherence tomography and MRI study”, (2010) Cerebrovascular Diseases, 31 (1), pp. 77-82.
Veneri, G., Piu, P., Federighi, P., Rosini, F., Federico, A., Rufa, A., “Eye fixations identification based on statistical analysis – Case study”, (2010) 2nd International Workshop on Cognitive Information Processing, art. no. 5604221, pp. 446-451.
Innocenti, A., Rufa, A., Semmoloni, J., “Overconfident Behavior in Informational Cascades: An Eye-Tracking Study”, (2010) Journal of Neuroscience, Psychology, and Economics, 3 (2), pp. 74-82.
Veneri, G., Federighi, P., Rosini, F., Federico, A., Rufa, A., “Influences of data filtering on human-computer interaction by gaze-contingent display and eye-tracking applications”, (2010) Computers in Human Behavior, 26 (6), pp. 1555-1563.
Malfatti, E., Cardaioli, E., Battisti, C., Da Pozzo, P., Malandrini, A., Rufa, A., Rocchi, R., Federico, A., “A novel point mutation in the mitochondrial tRNA(Trp) gene produces late-onset encephalomyopathy, plus additional features”, (2010) Journal of the Neurological Sciences, 297 (1-2), pp. 105-108.
Rufa, A., Cerase, A., Annunziata, P., De Santi, L., Buccoliero, R., Monti, L., Federico, A., “Transient supranuclear paresis of the abduction in viral encephalitis of the brainstem”, (2010) Neurological Sciences, 31 (5), pp. 653-655.
Gallus, G.N., Cardaioli, E., Rufa, A., da Pozzo, P., Bianchi, S., D’Eramo, C., Collura, M., Tumino, M., Pavone, L., Federico, A., “Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy”, (2010) Molecular Vision, 16, pp. 178-183.
Gallus, G.N., Dotti, M.T., Mignarri, A., Rufa, A., Da Pozzo, P., Cardaioli, E., Federico, A., “Four novel CYP27A1 mutations in seven Italian patients with CTX”, (2010) European Journal of Neurology, 17 (10), pp. 1259-1262.
Bianchi, S., Rufa, A., Ragno, M., D’Eramo, C., Pescini, F., Pantoni, L., Cappelli, A., Perretti, A., Zicari, E., Zolo, P., Inzitari, D., Dotti, M.T., Federico, A., “High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: Phenotypic peculiarities”, (2010) Journal of Neurology, 257 (6), pp. 1039-1042.
Mandalà, M., Rufa, A., Cerase, A., Bracco, S., Galluzzi, P., Venturi, C., Nuti, D., “Lateral medullary ischemia presenting with persistent hiccups and vertigo”, (2010) International Journal of Neuroscience, 120 (3), pp. 226-230.
Veneri, G., Federighi, P., Pretegiani, E., Rosini, F., Federico, A., Rufa, A., “Eva – Eye Tracking – Stimulus integrated semi automatic case base system”, (2009) WMSCI 2009 – The 13th World Multi-Conference on Systemics, Cybernetics and Informatics, Jointly with the 15th International Conference on Information Systems Analysis and Synthesis, ISAS 2009 – Proc., 2, pp. 45-46.
Rufa, A., Cerase, A., De Santi, L., Mandalà, M., Nuti, D., Giorgio, A., Annunziata, P., “Impairment of vertical saccades from an acute pontine lesion in multiple sclerosis” (2008) Journal of Neuro-Ophthalmology, 28 (4), pp. 305-307.
Rufa, A., Blardi, P., De Lalla, A., Cevenini, G., De Stefano, N., Zicari, E., Auteri, A., Federico, A., Dotti, M.T., “Plasma levels of asymmetric dimethylarginine in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy”, (2008) Cerebrovascular Diseases, 26 (6), pp. 636-640.
Piccirillo, G., Magrì, D., Mitra, M., Rufa, A., Zicari, E., Stromillo, M.L., De Stefano, N., Dotti, M.T., “Increased QT variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy”, (2008) European Journal of Neurology, 15 (11), pp. 1216-1221.
Rufa, A., Cerase, A., Monti, L., Battisti, C., Forte, F., Federico, A., Dotti, M.T., “Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL)”, (2008) Journal of the Neurological Sciences, 271 (1-2), pp. 211-213.
Gaudiano, C., Di Perri, C., Scali, O., Rufa, A., Battisti, C., De Stefano, N., Federico, A., “A case of ovarioleukodystrophy without eIF2B mutations”, (2008) Journal of the Neurological Sciences, 268 (1-2), pp. 183-186.
Szlago, M., Gallus, G.N., Schenone, A., Patiño, M.E., Sfaelo, Z., Rufa, A., Da Pozzo, P., Cardaioli, E., Dotti, M.T., Federico, A., “The first cerebrotendinous xanthomatosis family from argentina: A new mutation in CYP27A1 gene”, (2008) Neurology, 70 (5), pp. 402-404.
Mariottini, G.L., Prattichizzo, D., De Biasi, M., Snickars, C., Rufa, A., De Capua, A., Rossi, S., “Human-robotics interface for the interaction with cognitive and emotional human domains”, (2007) IEEE International Conference on Intelligent Robots and Systems, art. no. 4399474, pp. 528-533.
Rufa, A., Cerase, A., Monti, L., Dotti, M.T., Giorgio, A., Sicurelli, F., Federico, A., “Recurrent venous thrombosis including cerebral venous sinus thrombosis in a patient taking sildenafil for erectile dysfunction”, (2007) Journal of the Neurological Sciences, 260 (1-2), pp. 293-295.
Rufa, A., Guideri, F., Acampa, M., Cevenini, G., Bianchi, S., De Stefano, N., Stromillo, M.L., Federico, A., Dotti, M.T., “Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)”, (2007) Stroke, 38 (2), pp. 276-280.
Cardaioli, E., Da Pozzo, P., Gallus, G.N., Franceschini, R., Rufa, A., Dotti, M.T., Caporossi, A., Federico, A., “Leber’s hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption”, (2007) Journal of Neurology, 254 (2), pp. 255-256.
Rufa, A., Zicari, E., Cerase, A., Vallone, I.M., Dotti, M.T., Federico, A., “Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis”, (2006) Neurology, 67 (12), p. 2169. Cardaioli, E., Gallus, G.N., Da Pozzo, P., Rufa, A., Franceschini, R., Motolese, E., Caporossi, A., Dotti, M.T., Federico, A., “A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy”, (2006) Journal of Neurology, 253 (5), pp. 672-673.
Rufa, A., Dotti, M.T., Franchi, M., Stromillo, M.L., Cevenini, G., Bianchi, S., De Stefano, N., Federico, A., “Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy”, (2005) Stroke, 36 (12), pp. 2554-2558.
Rufa, A., Malandrini, A., Dotti, M.T., Berti, G., Salvadori, C., Federico, A., “Typical pathological changes of CADASIL in the optic nerve”, (2005) Neurological Sciences, 26 (4), pp. 271-274.
Rufa, A., Mariottini, G.L., Prattichizzo, D., Alessandrini, D., Vicino, A., Federico, A., “Video-based eye tracking: Our experience with advanced stimuli design for eye tracking software”, (2005) Annals of the New York Academy of Sciences, 1039, pp. 575-579.
Rufa, A., Dotti, M.T., Cardaioli, E., Da Pozzo, P., Federico, A., “Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: Clinical variability or effect of toxic environmental exposure?”, (2005) European Neurology, 53 (1), pp. 32-34.
Rufa, A., Dotti, M.T., Frezzotti, P., De Stefano, N., Caporossi, A., Federico, A., “Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy”, (2004) Archives of Neurology, 61 (8), pp. 1230-1233.
Battisti, C., Dotti, M.T., Loudianos, G., Dessì, V., Battistini, S., Amato, T., Rufa, A., Federico, A., “Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: Just a coincidence?”, (2004) Neurological Sciences, 25 (1), pp. 18-20.
Rufa, A., De Stefano, N., Dotti, M.T., Bianchi, S., Sicurelli, F., Stromillo, M.L., D’Aniello, B., Federico, A. “Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy”, (2004) Archives of Neurology, 61 (4), pp. 577-580.
Rufa, A., Dotti, M.T., Orrico, A., Battisti, C., Carletto, F., Federico, A., “Retinochoroidal atrophy in two adult patients with Angelman syndrome” (2003) American Journal of Medical Genetics, 122 A (2), pp. 155-158.
Battisti, C., Dotti, M.T., Cerase, A., Rufa, A., Sicurelli, F., Scarpini, C., Federico, A., “The Primrose syndrome with progressive neurological involvement and cerebral calcification” (2002) Journal of Neurology, 249 (10), pp. 1466-1468.
Pianigiani, E., Andreassi, A., De Aloe, G., Rubegni, P., Rufa, A., Motolese, E., “Chronic erythematous desquamative plaques of the eyelids”, (2002) Archives of Dermatology, 138 (4), pp. 527-532.
Rufa, A., Dotti, M.T., Galli, L., Orrico, A., Sicurelli, F., Federico, A., “Spinocerebellar ataxia type 2 (Sca2) associated with retinal pigmentary degeneration”, (2002) European Neurology, 47 (2), pp. 128-129.
Dotti, M.T., Rufa, A., Federico, A., “Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings”, (2001) Journal of Inherited Metabolic Disease, 24 (7), pp. 696-706.
Federico, A., Rufa, A., Battisti, C., Bianchi, S., Cardaioli, E., Da Pozzo, P., De Stefano, N., Formichi, P., Sicurelli, F., Dotti, M.T., “Genetic leukoencephalopathies with unknown metabolic pathogenesis”, (2001) Neurological Sciences, 22 (SUPPL. 2), pp. S108-S112.
Galluzzi, P., Rufa, A., Balestri, P., Cerase, A., Federico, A., “MR brain imaging of fucosidosis type I”, (2001) American Journal of Neuroradiology, 22 (4), pp. 777-780.
Battisti, C., Dotti, M.T., Cerase, A., Malandrini, A., Rufa, A., Sicurelli, F., Scarpini, C., Federico, A., “Primrose syndrome (mental deficiency, ataxic spastic syndrome, muscle wasting, bone abnormalities with ossification of pinnae, and cataracts): Report of the fourth case in the literature”, (2000) Neurological Sciences, 21 (4 SUPPL.).
Battisti, C., Rufa, A., Stromillo, M.L., Gravina, M., Lo Giudice, G., Carletto, F., Amato, T., Sicurelli, F., Battistini, S., Malandrini, A., Palmeri, S., Dotti, M.T., Federico, A., “ASA pseudodeficiency associated with leukoencephalopathy and peripheral neuropathy: Coincidence or not?”, (2000) Neurological Sciences, 21 (4 SUPPL.).
Palmeri, S., Villanova, M., Malandrini, A., Van Diggelen, O.P., Huijmans, J.G.M., Ceuterick, C., Rufa, A., DeFalco, D., Ciacci, G., Martin, J.J., Guazzi, G., “Type I sialidosis: A clinical, biochemical and neuroradiological study”, (2000) European Neurology, 43 (2), pp. 88-94.
Battisti, C., Loudianos, G., Rufa, A., Dotti, M.T., Sangiorgi, S., Dessì, V., Lovicu, M., Pirastu, M., Federico, A., “Detection of a rare wilson disease mutation associated with arylsulfatase a pseudodeficiency”, (1999) American Journal of Medical Genetics, 85 (2), pp. 175-178.
Federico, A., Dotti, M.T., Cardaioli, E., Grieco, G., Malandrini, A., Manneschi, L., Plewnia, K., Rufa, A., Renieri, A., Bruttini, M., Perticoni, G.F., “Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: Clinical, biochemical, histological, submicroscopic and molecular genetic study”, (1998) Journal of Submicroscopic Cytology and Pathology, 30 (4), pp. 521-526.
Dotti, M.T., Plewnia, K., Cardaioli, E., Manneschi, L., Rufa, A., Alemà, G., Federico, A., “A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt11778”, (1998) Journal of neurology, 245 (5), pp. 302-303.
Rufa, A., Plewnia, K., Federico, A., “II fenomeno di Marcus Gunn: Descrizione di un caso e rassegna delia letteratura (1997) Nuova Rivista di Neurologia, 7 (3), pp. X7-107.
Rufa, A., Dotti, M.T., Federico, A., “Neurophthalmologic examinations in neurogcnctic disease: Our experience in the U.O. Neurometabolic disease of University of Siena”, (1997) Italian Journal of Neurological Sciences, 18 (4), p. 119.
Plewnia, K., Dotti, M.T., Malandrini, A., Manneschi, L., Battisti, C., De Stefano, N., Rufa, A., Motolese, E., Federico, A., “A rare association of myasthenia gravis and mitochondrial myopathy: A clinical, biochemical and morphologic study of one case” (1997) Journal of Submicroscopic Cytology and Pathology, 29 (3), pp. 335-338.