Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy von Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio

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Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions von Battini, R., Chieffo, D., Bulgheroni, S., Piccini, G., Pecini, C., Lucibello, S., Lenzi, S., Moriconi, F., Pane, M., Astrea, G., Baranello, G., Alfieri, P., Vicari, S., Riva, D., Cioni, G., Mercuri, E.

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Does 7T MRI reveal a neuronal bridge between periventricular heterotopia and overlying cortical malformations? von Bartolini, E., Cosottini, M., Donatelli, G., Tosetti, M., Biagi, L., Battini, R., Guerrini, R.

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Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families von Tessa, A., Battini, R., Rubegni, A., Storti, E., Marini, C., Galatolo, D., Pasquariello, R., Santorelli, F. M.

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Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study von MAZZONE, E, VASCO, G, FROSINI, S, BELLO, L, BONFIGLIO, S, ZUCCHINI, E, DE SANCTIS, R, SCUTIFERO, M, BIANCO, F, ROSSI, F, MOTTA, M. C, SACCO, A, SORMANI, M. P, DONATI, M. A, MONGINI, T, PINI, A, BATTINI, R, PEGORARO, E, PANE, M, GASPERINI, S, PREVITALI, S, NAPOLITANO, S, MARTINELLI, D, TORRENTE, Y, BRUNO, C, VITA, G, COMI, G, BERTINI, E, MERCURI, E, BERARDINELLI, A, MESSINA, S, D'AMICO, A, DOGLIO, L, POLITANO, L, CAVALLARO, F

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Hyperlysinemia, an ultrarare inborn error of metabolism: Review and update von Marinella, G., Pascarella, F., Vetro, A., Bonuccelli, A., Pochiero, F., Santangelo, A., Alessandrì, MG, Pasquariello, R., Orsini, A., Battini, R.

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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency von Alesi, V, Genovese, S, Roberti, M C, Sallicandro, E, Di Tommaso, S, Loddo, S, Orlando, V, Pompili, D, Calacci, C, Mei, V, Pisaneschi, E, Faggiano, M V, Morgia, A, Mammì, C, Astrea, G, Battini, R, Priolo, M, Dentici, M L, Milone, R, Novelli, A

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Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment von Battini, R, Lenzi, S, Lucibello, S, Chieffo, D, Moriconi, F., Cristofani, P., Bulgheroni, S., Cumbo, F., Pane, M., Baranello, G., Alfieri, P., Astrea, G., Cioni, G., Vicari, S., Mercuri, E.

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Reliability of the North Star Ambulatory Assessment in a multicentric setting von Mazzone, E.S, Messina, S, Vasco, G, Main, M, Eagle, M, D’Amico, A, Doglio, L, Politano, L, Cavallaro, F, Frosini, S, Bello, L, Magri, F, Corlatti, A, Zucchini, E, Brancalion, B, Rossi, F, Ferretti, M, Motta, M.G, Cecio, M.R, Berardinelli, A, Alfieri, P, Mongini, T, Pini, A, Astrea, G, Battini, R, Comi, G, Pegoraro, E, Morandi, L, Pane, M, Angelini, C, Bruno, C, Villanova, M, Vita, G, Donati, M.A, Bertini, E, Mercuri, E

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Neuroimaging Features of Ectopic Cerebellar Tissue: A Case Series Study of a Rare Entity von Orman, G., Kralik, S. F., Battini, R., Buchignani, B., Desai, N. K., Goetti, R., Meoded, A., Mitter, C., Wallacher-Scholz, B., Boltshauser, E., Huisman, T. A. G. M.

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Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy von MERCURI, E, BERTINI, E, CINI, C, COLITTO, F, KINALI, M, MINETTI, C, MONGINI, T, MORANDI, L, NERI, G, ORCESI, S, PANE, M, PELLICCIONI, M, MESSINA, S, PINI, A, TIZIANO, F. D, VILLANOVA, M, VITA, G, BRAHE, C, SOLARI, A, D'AMICO, A, ANGELOZZI, C, BATTINI, R, BERARDINELLI, A, BOFFI, P, BRUNO, C

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High prevalence and allele burden-independent prognostic importance of p53 mutations in an inner-city MDS/AML cohort von Goel, S, Hall, J, Pradhan, K, Hirsch, C, Przychodzen, B, Shastri, A, Mantzaris, I, Janakiram, M, Battini, R, Kornblum, N, Derman, O, Gritsman, K, Al-Hafidh, J, Wang, Y, Halmos, B, Steidl, U, Maciejewski, J P, Braunschweig, I, Verma, A

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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation von Barone, Rita, Carrozzi, M., Parini, R., Battini, R., Martinelli, D., Elia, M., Spada, M., Lilliu, F., Ciana, G., Burlina, A., Leuzzi, V., Leoni, M., Sturiale, L., Matthijs, G., Jaeken, J., Di Rocco, M., Garozzo, D., Fiumara, A.

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Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings von Lucibello, S., Verdolotti, T., Giordano, F. M., Lapenta, L., Infante, A., Piludu, F., Tartaglione, T., Chieffo, D., Colosimo, C., Mercuri, E., Battini, R.

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R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome von Catania, A., Battini, R., Pippucci, T., Pasquariello, R., Chiapparini, M. L., Seri, M., Garavaglia, B., Zorzi, G., Nardocci, N., Ghezzi, D., Tiranti, V.

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Distinct functions of alternatively spliced isoforms encoded by zebrafish mef2ca and mef2cb von Ganassi, M., Badodi, S., Polacchini, A., Baruffaldi, F., Battini, R., Hughes, S.M., Hinits, Y., Molinari, S.

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Diffusion Tractography Biomarkers of Pediatric Cerebellar Hypoplasia/Atrophy: Preliminary Results Using Constrained Spherical Deconvolution von Fiori, S, Poretti, A, Pannek, K, Del Punta, R, Pasquariello, R, Tosetti, M, Guzzetta, A, Rose, S, Cioni, G, Battini, R

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Detection and preliminary characterization of a bacteriocin (plantaricin 35d) produced by a Lactobacillus plantarum strain von Messi, P., Bondi, M., Sabia, C., Battini, R., Manicardi, G.

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Muscle MRI in TRPV4-related congenital distal SMA von ASTREA, G, BRISCA, G, FIORILLO, C, VALE, M, TOSETTI, M, BRUNO, C, SANTORELLI, F. M, BATTINI, R

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The 24-month performance of upper limb (PUL) scale: Changes and steroids correlation in DMD von Mercuri, E, Pane, M, Palermo, C, D'amico, A, Messina, S, Battini, R, Bruno, C, Mongini, T, Pegoraro, E, D'Angelo, G, Pini, A, Gorni, K, Baranello, G, Bertini, E, Sormani, M

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