CARLUCCIO, MARIA ALESSANDRA
CARLUCCIO, MARIA ALESSANDRA
Dipartimento di Scienze Mediche, Chirurgiche e Neuroscienze
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy
2012-01-01 Cardaioli, Elena; Sicurelli, F; Carluccio, MARIA ALESSANDRA; Gallus, GIAN NICOLA; DA POZZO, Paola; Mondelli, M; Margollicci, Ma; Micheli, V; Federico, Antonio; Dotti, Maria
Cerebellum and neuropsychiatric disorders: insights from ARSACS
2014-01-01 Mignarri, Andrea; Alessandra, Tessa; Carluccio, MARIA ALESSANDRA; Rufa, Alessandra; Eugenia, Storti; Giovanni, Bonelli; Christian, Marcotulli; Filippo Maria, Santorelli; Luca, Leonardi; Carlo, Casali; Federico, Antonio; Dotti, Maria
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up.
2012-01-01 Sicurelli, F; Carluccio, MARIA ALESSANDRA; Toraldo, F; Tozzi, M; Bucalossi, A; Lenoci, M; Jacomelli, G; Micheli, V; Cardaioli, Elena; Mondelli, M; Federico, Antonio; Marotta, G; Dotti, Maria
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum
2017-01-01 Grosso, Salvatore; Carluccio, MARIA ALESSANDRA; Cardaioli, Elena; Cerase, Alfonso; Malandrini, Alessandro; Romano, Chiara; Federico, Antonio; Dotti, Maria
Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.
2014-01-01 Ginanneschi, Federica; Carluccio, MARIA ALESSANDRA; Mignarri, Andrea; Tessa, A; Santorelli, Fm; Rossi, Alessandro; Federico, Antonio; Dotti, Maria
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
2014-01-01 Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, FRANCESCA MARIA; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, MARIA ALESSANDRA; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider Khouja, Neziha; Valente, Enza Maria
Neurophthalmologic and Orthoptic Ambulatory Assessments Reveal Ocular and Visual Changes in Patients With Early Alzheimer and Parkinson's Disease
2020-01-01 Bargagli, A.; Fontanelli, E.; Zanca, D.; Castelli, I.; Rosini, F.; Maddii, S.; Di Donato, I.; Carluccio, A.; Battisti, C.; Tosi, G. M.; Dotti, M. T.; Rufa, A.
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
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.
2011-01-01 Cardaioli, Elena; Malfatti, Edoardo; Da Pozzo, Paola; Gallus, Gian Nicola; Carluccio, Maria Alessandra; Rufa, Alessandra; Volpi, Nila; Dotti, Maria; Federico, Antonio
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies.
2012-01-01 Ginanneschi, F; Filippou, G; Giannini, F; Carluccio, Ma; Adinolfi, A; Frediani, B; Dotti, M; Rossi, A
Tarlov cysts: clinical evaluation of an italian cohort of patients.
2013-01-01 Marino, Daniela; Carluccio, MARIA ALESSANDRA; DI DONATO, Ilaria; Sicurelli, F; Chini, Elena; DI TORO MAMMARELLA, Lara; Rossi, Francesca; Rubegni, Anna; Federico, Antonio
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis.
2012-01-01 Mignarri, Andrea; Carluccio, MARIA ALESSANDRA; Malandrini, Alessandro; Sicurelli, F; Galli, L; Mazzei, MARIA ANTONIETTA; Federico, Antonio; Orrico, A; Dotti, Maria
Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
2017-01-01 Carluccio, MARIA ALESSANDRA; DI DONATO, Ilaria; Pescini, Francesca; Battaglini, Marco; Bianchi, Silvia; Valenti, Raffaella; Nannucci, Serena; Franci, Beatrice; Stromillo, MARIA LAURA; DE STEFANO, Nicola; Inzitari, Domenico; Pantoni, Leonardo; Nuti, Ranuccio; Federico, Antonio; Gonnelli, Stefano; Dotti, Maria
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy | 1-gen-2012 | Cardaioli, Elena; Sicurelli, F; Carluccio, MARIA ALESSANDRA; Gallus, GIAN NICOLA; DA POZZO, Paola; Mondelli, M; Margollicci, Ma; Micheli, V; Federico, Antonio; Dotti, Maria | - | |
| Cerebellum and neuropsychiatric disorders: insights from ARSACS | 1-gen-2014 | Mignarri, Andrea; Alessandra, Tessa; Carluccio, MARIA ALESSANDRA; Rufa, Alessandra; Eugenia, Storti; Giovanni, Bonelli; Christian, Marcotulli; Filippo Maria, Santorelli; Luca, Leonardi; Carlo, Casali; Federico, Antonio; Dotti, Maria | - | |
| Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. | 1-gen-2012 | Sicurelli, F; Carluccio, MARIA ALESSANDRA; Toraldo, F; Tozzi, M; Bucalossi, A; Lenoci, M; Jacomelli, G; Micheli, V; Cardaioli, Elena; Mondelli, M; Federico, Antonio; Marotta, G; Dotti, Maria | - | |
| Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum | 1-gen-2017 | Grosso, Salvatore; Carluccio, MARIA ALESSANDRA; Cardaioli, Elena; Cerase, Alfonso; Malandrini, Alessandro; Romano, Chiara; Federico, Antonio; Dotti, Maria | - | |
| Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4. | 1-gen-2014 | Ginanneschi, Federica; Carluccio, MARIA ALESSANDRA; Mignarri, Andrea; Tessa, A; Santorelli, Fm; Rossi, Alessandro; Federico, Antonio; Dotti, Maria | - | |
| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome | 1-gen-2014 | Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, FRANCESCA MARIA; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, MARIA ALESSANDRA; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider Khouja, Neziha; Valente, Enza Maria | - | |
| Neurophthalmologic and Orthoptic Ambulatory Assessments Reveal Ocular and Visual Changes in Patients With Early Alzheimer and Parkinson's Disease | 1-gen-2020 | Bargagli, A.; Fontanelli, E.; Zanca, D.; Castelli, I.; Rosini, F.; Maddii, S.; Di Donato, I.; Carluccio, A.; Battisti, C.; Tosi, G. M.; Dotti, M. T.; Rufa, A. | - | |
| 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 | - | |
| Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. | 1-gen-2011 | Cardaioli, Elena; Malfatti, Edoardo; Da Pozzo, Paola; Gallus, Gian Nicola; Carluccio, Maria Alessandra; Rufa, Alessandra; Volpi, Nila; Dotti, Maria; Federico, Antonio | - | |
| Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. | 1-gen-2012 | Ginanneschi, F; Filippou, G; Giannini, F; Carluccio, Ma; Adinolfi, A; Frediani, B; Dotti, M; Rossi, A | - | |
| Tarlov cysts: clinical evaluation of an italian cohort of patients. | 1-gen-2013 | Marino, Daniela; Carluccio, MARIA ALESSANDRA; DI DONATO, Ilaria; Sicurelli, F; Chini, Elena; DI TORO MAMMARELLA, Lara; Rossi, Francesca; Rubegni, Anna; Federico, Antonio | - | |
| The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. | 1-gen-2012 | Mignarri, Andrea; Carluccio, MARIA ALESSANDRA; Malandrini, Alessandro; Sicurelli, F; Galli, L; Mazzei, MARIA ANTONIETTA; Federico, Antonio; Orrico, A; Dotti, Maria | - | |
| Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) | 1-gen-2017 | Carluccio, MARIA ALESSANDRA; DI DONATO, Ilaria; Pescini, Francesca; Battaglini, Marco; Bianchi, Silvia; Valenti, Raffaella; Nannucci, Serena; Franci, Beatrice; Stromillo, MARIA LAURA; DE STEFANO, Nicola; Inzitari, Domenico; Pantoni, Leonardo; Nuti, Ranuccio; Federico, Antonio; Gonnelli, Stefano; Dotti, Maria | - |