Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families
Tessa, A., Battini, R., Rubegni, A., Storti, E., Marini, C., Galatolo, D., Pasquariello, R., Santorelli, F. M.
Published in European journal of neurology (01.10.2016)
Published in European journal of neurology (01.10.2016)
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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
Montano, V., Orsucci, D., Carelli, V., La Morgia, C., Valentino, M. L., Lamperti, C., Marchet, S., Musumeci, O., Toscano, A., Primiano, G., Santorelli, F. M., Ticci, C., Filosto, M., Rubegni, A., Mongini, T., Tonin, P., Servidei, S., Ceravolo, R., Siciliano, G., Mancuso, Michelangelo
Published in Journal of neurology (01.03.2022)
Published in Journal of neurology (01.03.2022)
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. Caldarazzo, Diodato, D., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., Mancuso, M.
Published in Journal of neurology (01.08.2017)
Published in Journal of neurology (01.08.2017)
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Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability
Tolomeo, D., Rubegni, A., Severino, M., Pochiero, F., Bruno, C., Cassandrini, D., Madeo, A., Doccini, S., Pedemonte, M., Rossi, A., D'Amore, F., Donati, M.A., Di Rocco, M., Santorelli, F.M., Nesti, C.
Published in Journal of the neurological sciences (15.04.2019)
Published in Journal of the neurological sciences (15.04.2019)
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Journal Article
Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene
Andreini, I., Moro, F., Africa, L.M., Rubegni, A., Santorelli, F.M., Scarpini, C., Sicurelli, F., Battisti, C.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.04.2020)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.04.2020)
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Journal Article
Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy
Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F., Piacentini, S., Silvestri, G., De Michele, G., Filla, A., Orsi, L., Santorelli, F. M., Brusco, A.
Published in European journal of neurology (01.01.2019)
Published in European journal of neurology (01.01.2019)
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Journal Article
Tarlov cysts: clinical evaluation of an italian cohort of patients
Marino, D., Carluccio, M. A., Di Donato, I., Sicurelli, F., Chini, E., Di Toro Mammarella, L., Rossi, F., Rubegni, A., Federico, A.
Published in Neurological sciences (01.09.2013)
Published in Neurological sciences (01.09.2013)
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Journal Article
X-linked myotubular myopathy in females
Fiorillo, C, Fattori, F, Astrea, G, Pedemonte, M, Rubegni, A, Trucco, F, Tessa, A, Savarese, M, Baldacci, J, Broda, P, Bertini, E, Minetti, C, Nigro, V, Bruno, C, Santorelli, F
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA
Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M T, Federico, A
Published in Journal of the neurological sciences (15.09.2008)
Published in Journal of the neurological sciences (15.09.2008)
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Journal Article
Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNALeu(CUN) mutation of mitochondrial DNA
Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G.N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M.T, Federico, A
Published in Journal of the neurological sciences (01.09.2008)
Published in Journal of the neurological sciences (01.09.2008)
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Journal Article
Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNA Leu(CUN) mutation of mitochondrial DNA
Cardaioli, E., Da Pozzo, P., Malfatti, E., Gallus, G.N., Rubegni, A., Malandrini, A., Gaudiano, C., Guidi, L., Serni, G., Berti, G., Dotti, M.T., Federico, A.
Published in Journal of the neurological sciences (2008)
Published in Journal of the neurological sciences (2008)
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Journal Article
P.110Clinical, morphological and genetic data in Italian patients with fiber-type-disproportion
Maggi, L., Verardo, M., Rubegni, A., Bruno, C., Lupica, A., Berardinelli, A., Ripolone, M., Vattemi, G., Ruggiero, L., D'Amico, A., Rodolico, C., Sciacco, M., Nigro, V., Santorelli, F., Tonin, P., Fiorillo, C., Mora, M.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
Muscle pain in mitochondrial diseases: a picture from the Italian network
Filosto, Massimiliano, Cotti Piccinelli, Stefano, Lamperti, Costanza, Mongini, Tiziana, Servidei, Serenella, Musumeci, Olimpia, Tonin, Paola, Santorelli, Filippo Maria, Simoncini, Costanza, Primiano, Guido, Vercelli, Liliana, Rubegni, Anna, Galvagni, Anna, Moggio, Maurizio, Comi, Giacomo Pietro, Carelli, Valerio, Toscano, Antonio, Padovani, Alessandro, Siciliano, Gabriele, Mancuso, Michelangelo
Published in Journal of neurology (01.04.2019)
Published in Journal of neurology (01.04.2019)
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Journal Article
Prevalence and phenotype of the c.1529C>T SPG 7 variant in adult‐onset cerebellar ataxia in Italy
Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F., Piacentini, S., Silvestri, G., De Michele, G., Filla, A., Orsi, L., Santorelli, F. M., Brusco, A.
Published in European journal of neurology (01.01.2019)
Published in European journal of neurology (01.01.2019)
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Journal Article
G.P.295 - X-linked myotubular myopathy in females
Fiorillo, C., Fattori, F., Astrea, G., Pedemonte, M., Rubegni, A., Trucco, F., Tessa, A., Savarese, M., Baldacci, J., Broda, P., Bertini, E., Minetti, C., Nigro, V., Bruno, C., Santorelli, F.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Chronic progressive external ophthalmoplegia: A new heteroplasmic tRNA super(Leu(CUN) mutation of mitochondrial DNA)
Cardaioli, E, Da Pozzo, P, Malfatti, E, Gallus, G N, Rubegni, A, Malandrini, A, Gaudiano, C, Guidi, L, Serni, G, Berti, G, Dotti, M T, Federico, A
Published in Journal of the neurological sciences (15.09.2008)
Published in Journal of the neurological sciences (15.09.2008)
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Journal Article
Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene
Andreini, I, Moro, F, Africa, L M, Rubegni, A, Santorelli, F M, Scarpini, C, Sicurelli, F, Battisti, C
Published in Amyotrophic lateral sclerosis & frontotemporal degeneration (01.05.2020)
Published in Amyotrophic lateral sclerosis & frontotemporal degeneration (01.05.2020)
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