Sfoglia per Autore
Editorial: Ocular motor and vestibular deficits in neurometabolic, neurogenetic, and neurodegenerative diseases
2018-01-01 Rufa, A.; Shaikh, A. G.
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism
2018-01-01 Koens, L. H.; Tijssen, M. A. J.; Lange, F.; Wolffenbuttel, B. H. R.; Rufa, A.; Zee, D. S.; de Koning, T. J.
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis
2017-01-01 Rosini, Francesca; Pretegiani, Elena; Mignarri, Andrea; Optican, Lance M.; Serchi, Valeria; DE STEFANO, Nicola; Battaglini, Marco; Monti, Lucia; Dotti, Maria; Federico, Antonio; Rufa, Alessandra
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients
2017-01-01 DA POZZO, Paola; Cardaioli, Elena; Rubegni, Anna; Gallus, GIAN NICOLA; Malandrini, Alessandro; Rufa, Alessandra; Battisti, Carla; Carluccio, MARIA ALESSANDRA; Rocchi, Raffaele; Giannini, Fabio; Bianchi, Amedeo; Mancuso, Michelangelo; Siciliano, Gabriele; Dotti, Maria; Federico, Antonio
Clinical and MRI improvement in a case of progressive multifocal leukoencephalopathy
2017-01-01 Tirelli, Letizia; Rosini, Francesca; Rufa, Alessandra; Garosi, Guido; Cerase, Alfonso; Federico, Antonio; DE LUCA, Andrea
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families
2017-01-01 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.; Federico, A.
GABAAergic dysfunction in the olivary-cerebellar-brainstem network may cause eye oscillations and body tremor
2017-01-01 Pretegiani, Elena; Rosini, Francesca; Rocchi, Raffaele; Ginanneschi, Federica; Vinciguerra, Claudia; Optican, Lance M.; Rufa, Alessandra
Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network
2017-01-01 Pretegiani, Elena; Rosini, Francesca; Federico, Antonio; Optican, Lance M.; Rufa, Alessandra
Characteristic eye movements in ataxia-telangiectasia-like disorder: An explanatory hypothesis
2017-01-01 Federighi, Pamela; Ramat, Stefano; Rosini, Francesca; Pretegiani, Elena; Federico, Antonio; Rufa, Alessandra
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects
2017-01-01 DI DONATO, Ilaria; Bianchi, Silvia; DE STEFANO, Nicola; Dichgans, Martin; Dotti, Maria; Duering, Marco; Jouvent, Eric; Korczyn, Amos D.; Lesnik Oberstein, Saskia A. J.; Malandrini, Alessandro; Markus, Hugh S.; Pantoni, Leonardo; Penco, Silvana; Rufa, Alessandra; Sinanović, Osman; Stojanov, Dragan; Federico, Antonio
Cavernous sinus syndrome due to neurosarcoidosis in adolescence: a diagnosis not to be missed
2016-01-01 Rosini, Francesca; Bennett, David; Cerase, Alfonso; Volterrani, Luca; Federico, • A.; Rottoli, Paola; Rufa, Alessandra
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene
2016-01-01 DI GIOVANNI, Mario; Poggiani, A.; Bianchi, Silvia; Rosini, Francesca; Rufa, Alessandra; Federico, Antonio
Eye movement abnormalities in a patient with Zellweger spectrum disorder
2016-01-01 Rosini, Francesca; Vinciguerra, Claudia; Mignarri, Andrea; DI GIOVANNI, Mario; Federico, Antonio; Rufa, Alessandra
Progression of oculomotor deficit in a patient with posterior cortical atrophy
2016-01-01 Rosini, Francesca; Serchi, Valeria; Tirelli, Letizia; DI TORO MAMMARELLA, Lara; Pucci, Barbara; Federico, Antonio; Rufa, Alessandra
Visual impairment in FOXG1-mutated individuals and mice
2016-01-01 Boggio, E. M.; Pancrazi, L.; Gennaro, M.; Lo Rizzo, C.; Mari, Francesca; Meloni, Ilaria; Ariani, Francesca; Panighini, A.; Novelli, Edoardo; Biagioni, M.; Strettoi, E.; Hayek, J.; Rufa, Alessandra; Pizzorusso, T.; Renieri, Alessandra; Costa, M.
Gastrointestinal Surgery and Wernicke Encephalopathy
2015-01-01 Rufa, A.; Rosini, F.
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene
2015-01-01 Formichi, Patrizia; Radi, Elena; Giorgi, Eleonora; Gallus, GIAN NICOLA; Brunetti, Jlenia; Battisti, Carla; Rufa, Alessandra; Dotti, Maria; Franceschini, Rossella; Bracci, Luisa; Federico, Antonio
Action and perception are temporally coupled by a common mechanism that leads to a timing misperception
2015-01-01 Pretegiani, Elena; Astefanoaei, Corina; Daye, Pierre M; Fitzgibbon, Edmond J; Creanga, Dorina Emilia; Rufa, Alessandra; Optican, Lance M.
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis
2015-01-01 Pretegiani, Elena; Rosini, Francesca; Federighi, Pamela; Cerase, A; Dotti, Maria; Rufa, Alessandra
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology
2015-01-01 Fallerini, Chiara; Carignani, Giulia; Capoccitti, Giorgio; Federico, Antonio; Rufa, Alessandra; Pinto, ANNA MARIA; Rizzo, Caterina Lo; Rossi, Alessandro; Mari, Francesca; Mencarelli, MARIA ANTONIETTA; Giannini, Fabio; Renieri, Alessandra
Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
---|---|---|---|---|
Editorial: Ocular motor and vestibular deficits in neurometabolic, neurogenetic, and neurodegenerative diseases | 1-gen-2018 | Rufa, A.; Shaikh, A. G. | - | |
Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism | 1-gen-2018 | Koens, L. H.; Tijssen, M. A. J.; Lange, F.; Wolffenbuttel, B. H. R.; Rufa, A.; Zee, D. S.; de Koning, T. J. | - | |
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis | 1-gen-2017 | Rosini, Francesca; Pretegiani, Elena; Mignarri, Andrea; Optican, Lance M.; Serchi, Valeria; DE STEFANO, Nicola; Battaglini, Marco; Monti, Lucia; Dotti, Maria; Federico, Antonio; Rufa, Alessandra | - | |
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients | 1-gen-2017 | DA POZZO, Paola; Cardaioli, Elena; Rubegni, Anna; Gallus, GIAN NICOLA; Malandrini, Alessandro; Rufa, Alessandra; Battisti, Carla; Carluccio, MARIA ALESSANDRA; Rocchi, Raffaele; Giannini, Fabio; Bianchi, Amedeo; Mancuso, Michelangelo; Siciliano, Gabriele; Dotti, Maria; Federico, Antonio | - | |
Clinical and MRI improvement in a case of progressive multifocal leukoencephalopathy | 1-gen-2017 | Tirelli, Letizia; Rosini, Francesca; Rufa, Alessandra; Garosi, Guido; Cerase, Alfonso; Federico, Antonio; DE LUCA, Andrea | - | |
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families | 1-gen-2017 | 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.; Federico, A. | - | |
GABAAergic dysfunction in the olivary-cerebellar-brainstem network may cause eye oscillations and body tremor | 1-gen-2017 | Pretegiani, Elena; Rosini, Francesca; Rocchi, Raffaele; Ginanneschi, Federica; Vinciguerra, Claudia; Optican, Lance M.; Rufa, Alessandra | - | |
Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network | 1-gen-2017 | Pretegiani, Elena; Rosini, Francesca; Federico, Antonio; Optican, Lance M.; Rufa, Alessandra | - | |
Characteristic eye movements in ataxia-telangiectasia-like disorder: An explanatory hypothesis | 1-gen-2017 | Federighi, Pamela; Ramat, Stefano; Rosini, Francesca; Pretegiani, Elena; Federico, Antonio; Rufa, Alessandra | - | |
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects | 1-gen-2017 | DI DONATO, Ilaria; Bianchi, Silvia; DE STEFANO, Nicola; Dichgans, Martin; Dotti, Maria; Duering, Marco; Jouvent, Eric; Korczyn, Amos D.; Lesnik Oberstein, Saskia A. J.; Malandrini, Alessandro; Markus, Hugh S.; Pantoni, Leonardo; Penco, Silvana; Rufa, Alessandra; Sinanović, Osman; Stojanov, Dragan; Federico, Antonio | - | |
Cavernous sinus syndrome due to neurosarcoidosis in adolescence: a diagnosis not to be missed | 1-gen-2016 | Rosini, Francesca; Bennett, David; Cerase, Alfonso; Volterrani, Luca; Federico, • A.; Rottoli, Paola; Rufa, Alessandra | - | |
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene | 1-gen-2016 | DI GIOVANNI, Mario; Poggiani, A.; Bianchi, Silvia; Rosini, Francesca; Rufa, Alessandra; Federico, Antonio | - | |
Eye movement abnormalities in a patient with Zellweger spectrum disorder | 1-gen-2016 | Rosini, Francesca; Vinciguerra, Claudia; Mignarri, Andrea; DI GIOVANNI, Mario; Federico, Antonio; Rufa, Alessandra | - | |
Progression of oculomotor deficit in a patient with posterior cortical atrophy | 1-gen-2016 | Rosini, Francesca; Serchi, Valeria; Tirelli, Letizia; DI TORO MAMMARELLA, Lara; Pucci, Barbara; Federico, Antonio; Rufa, Alessandra | - | |
Visual impairment in FOXG1-mutated individuals and mice | 1-gen-2016 | Boggio, E. M.; Pancrazi, L.; Gennaro, M.; Lo Rizzo, C.; Mari, Francesca; Meloni, Ilaria; Ariani, Francesca; Panighini, A.; Novelli, Edoardo; Biagioni, M.; Strettoi, E.; Hayek, J.; Rufa, Alessandra; Pizzorusso, T.; Renieri, Alessandra; Costa, M. | - | |
Gastrointestinal Surgery and Wernicke Encephalopathy | 1-gen-2015 | Rufa, A.; Rosini, F. | - | |
Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene | 1-gen-2015 | Formichi, Patrizia; Radi, Elena; Giorgi, Eleonora; Gallus, GIAN NICOLA; Brunetti, Jlenia; Battisti, Carla; Rufa, Alessandra; Dotti, Maria; Franceschini, Rossella; Bracci, Luisa; Federico, Antonio | - | |
Action and perception are temporally coupled by a common mechanism that leads to a timing misperception | 1-gen-2015 | Pretegiani, Elena; Astefanoaei, Corina; Daye, Pierre M; Fitzgibbon, Edmond J; Creanga, Dorina Emilia; Rufa, Alessandra; Optican, Lance M. | - | |
Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis | 1-gen-2015 | Pretegiani, Elena; Rosini, Francesca; Federighi, Pamela; Cerase, A; Dotti, Maria; Rufa, Alessandra | - | |
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology | 1-gen-2015 | Fallerini, Chiara; Carignani, Giulia; Capoccitti, Giorgio; Federico, Antonio; Rufa, Alessandra; Pinto, ANNA MARIA; Rizzo, Caterina Lo; Rossi, Alessandro; Mari, Francesca; Mencarelli, MARIA ANTONIETTA; Giannini, Fabio; Renieri, Alessandra | - |
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