Integrative human and murine multi-omics: Highlighting shared biomarkers in the neuronal ceroid lipofuscinoses
Gammaldi, N, Pezzini, F, Michelucci, E, Di Giorgi, N, Simonati, A, Rocchiccioli, S, Santorelli, F M, Doccini, S
Published in Neurobiology of disease (01.12.2023)
Published in Neurobiology of disease (01.12.2023)
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Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
Dimmock, D.P, Zhang, Q, Dionisi-Vici, C, Carrozzo, R, Shieh, J, Tang, L.Y, Truong, C, Schmitt, E, Sifry-Platt, M, Lucioli, S, Santorelli, F.M, Ficicioglu, C.H, Rodriguez, M, Wierenga, K, Enns, G.M, Longo, N, Lipson, M.H, Vallance, H, Craigen, W.J, Scaglia, F, Wong, L.J
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56
Masciullo, M, Tessa, A, Perazza, S, Santorelli, F.M, Perna, A, Silvestri, G
Published in European journal of paediatric neurology (01.05.2016)
Published in European journal of paediatric neurology (01.05.2016)
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Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease
Simonati, A, Pezzini, F, Moro, F, Santorelli, F M
Published in Current molecular medicine (13.10.2014)
Published in Current molecular medicine (13.10.2014)
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6. Glutamate Receptor Ionotropic AMPA 3 (GRIA3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache patients
Coppola, G, Di Lorenzo, C, Grieco, G.S, Santoro, M, Santorelli, F.M, Pascale, E, Pierelli, F
Published in Clinical neurophysiology (01.12.2016)
Published in Clinical neurophysiology (01.12.2016)
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45. Clinical and electrophysiological non-SPG4 spectrum of HSP
Polo, A, Ferigo, L, Marucco, A, Sorarù, G, Santorelli, F.M, Bonometti, M.A
Published in Clinical neurophysiology (01.01.2015)
Published in Clinical neurophysiology (01.01.2015)
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Impaired neuronal connectivity as dysregulated cellular function in CLN1 disease: A pathogenetic prediction by RNAseq analysis
Simonati, A, Pezzini, F, Bianchi, M, Bettinetti, L, Carrozzo, R, Santorelli, F.M, Delledonne, M, Lalowski, M
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
Pane, M, Messina, S, Vasco, G, Foley, A.R, Morandi, L, Pegoraro, E, Mongini, T, D’Amico, A, Bianco, F, Lombardo, M.E, Scalise, R, Bruno, C, Berardinelli, A, Pini, A, Moroni, I, Mora, M, Toscano, A, Moggio, M, Comi, G, Santorelli, F.M, Bertini, E, Muntoni, F, Mercuri, E
Published in Neuromuscular disorders : NMD (01.08.2012)
Published in Neuromuscular disorders : NMD (01.08.2012)
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Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide
Tessa, A, Denora, P S, Racis, L, Storti, E, Orlacchio, A, Santorelli, F M
Published in Current molecular medicine (01.01.2014)
Published in Current molecular medicine (01.01.2014)
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Metabolic Ataxias in Adults
Antenora, A, Filla, A, Santorelli, F M, Peluso, S, Sacca, F, De Michele, G
Published in Current molecular medicine (01.01.2014)
Published in Current molecular medicine (01.01.2014)
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P.9.9 A novel de novo mutation in ACTA1 causes a congenital myopathy with misleading type 1 fiber predominance and a peculiar MRI
Castiglioni, C, Cassandrini, D, Fattori, F, Bellacchio, E, Alvarez, K, D’Amico, A, Gejman, R, Díaz, J, Santorelli, F.M, Bevilacqua, J.A, Bertini, E
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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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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P.1.11 Development of a registry and a database for a nation-wide Italian collaborative network on congenital muscular dystrophy
Bianco, F, D’Amico, A, Messina, S, Politano, L, Santorelli, F.M, Bruno, C, Boffi, P, Pegoraro, E, Berardinelli, A, Comi, G.P, Pini, A, Moroni, I, Bertini, E, Pane, M, Mercuri, E
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies
Fattori, F, Maggi, L, Bruno, C, Codemo, V, Tasca, G, Battini, R, Berardinelli, A, Catteruccia, M, Cassandrini, D, Fiorillo, C, Pane, M, Pegoraro, E, Mora, M, Morandi, L, Comi, P.G, Mercuri, E, Santoro, L, Santorelli, F.M, Bertini, E, D’Amico, A
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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G.O.7
Savarese, M, Di Fruscio, G, Torella, A, Mutarelli, M, Comi, G.P, Mongini, T, Ricci, E, Angelini, C, Fanin, M, Pegoraro, E, Musumeci, O, Toscano, A, Siciliano, G, Mora, M, Morandi, L, Bertini, E.M, D’Amico, A, Tasca, G, Bruno, C, Fiorillo, C, Minetti, C, Santorelli, F.M, Garofalo, A, Giugliano, T, Pisano, C, Del Vecchio Blanco, F, Piluso, G, De Concilio, O, Sacconi, S, Politano, L, Nigro, V
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay
Terracciano, A, Foulds, N C, Ditchfield, A, Bunyan, D J, Crolla, J A, Huang, S, Santorelli, F M, Hammans, S R
Published in Neurology (06.04.2010)
Published in Neurology (06.04.2010)
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The wolframin His611Arg polymorphism influences medication overuse headache
Di Lorenzo, C., Sances, G., Di Lorenzo, G., Rengo, C., Ghiotto, N., Guaschino, E., Perrotta, A., Santorelli, F.M., Grieco, G.S., Troisi, A., Siracusano, A., Pierelli, F., Nappi, G., Casali, C.
Published in Neuroscience letters (13.09.2007)
Published in Neuroscience letters (13.09.2007)
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P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population
Astrea, G, Pecini, C, Gasperini, F, Fiorillo, C, Bruno, C, Cioni, G, Politano, L, Santorelli, F.M, Battini, R
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop
Cricchi, F, Di Lorenzo, C, Grieco, G.S, Rengo, C, Cardinale, A, Racaniello, M, Santorelli, F.M, Nappi, G, Pierelli, F, Casali, C
Published in Journal of the neurological sciences (15.03.2007)
Published in Journal of the neurological sciences (15.03.2007)
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