Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
Mercuri, E, Messina, S, Bruno, C, Mora, M, Pegoraro, E, Comi, G P, D'Amico, A, Aiello, C, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Laverda, A, Moggio, M, Morandi, L, Moroni, I, Pane, M, Pezzani, R, Pichiecchio, A, Pini, A, Minetti, C, Mongini, T, Mottarelli, E, Ricci, E, Ruggieri, A, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, C P, Uggetti, C, Vasco, G, Santorelli, F M, Bertini, E
Published in Neurology (26.05.2009)
Published in Neurology (26.05.2009)
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The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a
FERACO, P, MIRABELLI-BADENIER, M, SEVERINO, M, ALPIGIANI, M. G, DI ROCCO, M, BIANCHERI, R, ROSSI, A
Published in American journal of neuroradiology : AJNR (01.12.2012)
Published in American journal of neuroradiology : AJNR (01.12.2012)
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Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies
Cassandrini, D, Biancheri, R, Tessa, A, Di Rocco, M, Di Capua, M, Bruno, C, Denora, P S, Sartori, S, Rossi, A, Nozza, P, Emma, F, Mezzano, P, Politi, M R, Laverda, A M, Zara, F, Pavone, L, Simonati, A, Leuzzi, V, Santorelli, F M, Bertini, E
Published in Neurology (19.10.2010)
Published in Neurology (19.10.2010)
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Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy
Madia, F, Striano, P, Gennaro, E, Malacarne, M, Paravidino, R, Biancheri, R, Budetta, M, Cilio, M R, Gaggero, R, Pierluigi, M, Minetti, C, Zara, F
Published in Neurology (10.10.2006)
Published in Neurology (10.10.2006)
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Novel FAM126A mutations in hypomyelination and congenital cataract disease
Traverso, M., Assereto, S., Gazzerro, E., Savasta, S., Abdalla, E.M., Rossi, A., Baldassari, S., Fruscione, F., Ruffinazzi, G., Fassad, M.R., El Beheiry, A., Minetti, C., Zara, F., Biancheri, R.
Published in Biochemical and biophysical research communications (27.09.2013)
Published in Biochemical and biophysical research communications (27.09.2013)
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Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation
Biancheri, R, Rossi, D, Cassandrini, D, Rossi, A, Bruno, C, Santorelli, F M
Published in American journal of neuroradiology : AJNR (01.10.2010)
Published in American journal of neuroradiology : AJNR (01.10.2010)
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AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset
Armstrong, L., Biancheri, R., Shyr, C., Rossi, A., Sinclair, G., Ross, C. J., Tarailo-Graovac, M., Wasserman, W. W., van Karnebeek, C. D. M.
Published in Neurogenetics (01.08.2014)
Published in Neurogenetics (01.08.2014)
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Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I
Assereto, S., Robbiano, A., Di Rocco, M., Rossi, A., Cassandrini, D., Panicucci, C., Brigati, G., Biancheri, R., Bruno, C., Minetti, C., Trucks, H., Sander, T., Zara, F., Gazzerro, E.
Published in Clinical genetics (01.07.2014)
Published in Clinical genetics (01.07.2014)
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Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder
Rossi, A, Biancheri, R, Zara, F, Bruno, C, Uziel, G, van der Knaap, M.S, Minetti, C, Tortori-Donati, P
Published in American journal of neuroradiology : AJNR (01.02.2008)
Published in American journal of neuroradiology : AJNR (01.02.2008)
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Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy
Mirabelli-Badenier, M, Biancheri, R, Morana, G, Fornarino, S, Siri, L, Celle, M.E, Veneselli, E, Vincent, A, Gaggero, R, Mancardi, M.M
Published in European journal of paediatric neurology (01.01.2014)
Published in European journal of paediatric neurology (01.01.2014)
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Congenital muscular dystrophies with cognitive impairment. A population study
Messina, S, Bruno, C, Moroni, I, Pegoraro, E, D'Amico, A, Biancheri, R, Berardinelli, A, Boffi, P, Cassandrini, D, Farina, L, Minetti, C, Moggio, M, Mongini, T, Mottarelli, E, Pane, M, Pantaleoni, C, Pichiecchio, A, Pini, A, Ricci, E, Saredi, S, Sframeli, M, Tortorella, G, Toscano, A, Trevisan, C P, Uggetti, C, Vasco, G, Comi, G P, Santorelli, F M, Bertini, E, Mercuri, E
Published in Neurology (07.09.2010)
Published in Neurology (07.09.2010)
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Expanding the clinical spectrum of POMT1 phenotype
D'Amico, A, Tessa, A, Bruno, C, Petrini, S, Biancheri, R, Pane, M, Pedemonte, M, Ricci, E, Falace, A, Rossi, A, Mercuri, E, Santorelli, F M, Bertini, E
Published in Neurology (23.05.2006)
Published in Neurology (23.05.2006)
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Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease
Morana, G, Biancheri, R, Dirocco, M, Filocamo, M, Marazzi, M G, Pessagno, A, Rossi, A
Published in Neuropediatrics (01.12.2009)
Published in Neuropediatrics (01.12.2009)
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POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
Messina, S, Mora, M, Pegoraro, E, Pini, A, Mongini, T, D’Amico, A, Pane, M, Aiello, C, Bruno, C, Biancheri, R, Berardinelli, A, Boito, C, Farina, L, Morandi, L, Moroni, I, Pezzani, R, Pichiecchio, A, Ricci, E, Ruggieri, A, Saredi, S, Scuderi, C, Tessa, A, Toscano, A, Tortorella, G, Trevisan, C.P, Uggetti, C, Santorelli, F.M, Bertini, E, Mercuri, E
Published in Neuromuscular disorders : NMD (01.07.2008)
Published in Neuromuscular disorders : NMD (01.07.2008)
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GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
Caroli, F, Biancheri, R, Seri, M, Rossi, A, Pessagno, A, Bugiani, M, Corsolini, F, Savasta, S, Romano, S, Antonelli, C, Romano, A, Pareyson, D, Gambero, P, Uziel, G, Ravazzolo, R, Ceccherini, I, Filocamo, M
Published in Clinical genetics (01.11.2007)
Published in Clinical genetics (01.11.2007)
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Spinal dysraphism: MR imaging rationale
Rossi, A., Cama, A., Piatelli, G., Ravegnani, M., Biancheri, R., Tortori-donati, P.
Published in Journal of neuroradiology (2004)
Published in Journal of neuroradiology (2004)
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Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy
Orcesi, S, Pessagno, A, Biancheri, R, La Piana, R, Mascaretti, M, Rossi, A, Rice, G.I, Crow, Y.J, Fazzi, E, Veneselli, E
Published in European journal of paediatric neurology (01.09.2008)
Published in European journal of paediatric neurology (01.09.2008)
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Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications
Regis, S, Biancheri, R, Bertini, E, Burlina, A, Lualdi, S, Bianco, MG, Devescovi, R, Rossi, A, Uziel, G, Filocamo, M
Published in Clinical genetics (01.03.2008)
Published in Clinical genetics (01.03.2008)
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Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11
Siri, L, Battaglia, F M, Tessa, A, Rossi, A, Rocco, M Di, Facchinetti, S, Mascaretti, M, Santorelli, F M, Veneselli, E, Biancheri, R
Published in Neuropediatrics (01.02.2010)
Published in Neuropediatrics (01.02.2010)
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Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders
Di Rocco, M, Rossi, A, Parenti, G, Allegri, A E M, Filocamo, M, Pessagno, A, Tortori-Donati, P, Minetti, C, Biancheri, R
Published in Neuropediatrics (01.08.2005)
Published in Neuropediatrics (01.08.2005)
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