Search Results - "Mercuri, E."

Therapeutic approaches for spinal muscular atrophy (SMA) by Scoto, M, Finkel, R S, Mercuri, E, Muntoni, F

“…Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and loss of muscle function due to…”
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Trophic state index for heavily impacted watersheds: modeling the influence of diffuse pollution in water bodies by Carneiro, L., Ostroski, A., Mercuri, E. G. F.

“…This study aims to understand the response of the trophic state index (TSI) of a reservoir under different watershed land-use scenarios. A novel methodology…”
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The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability by Glanzman, A.M, Mazzone, E, Main, M, Pelliccioni, M, Wood, J, Swoboda, K.J, Scott, C, Pane, M, Messina, S, Bertini, E, Mercuri, E, Finkel, R.S

“…Abstract The motor skills of patients with spinal muscular atrophy, type I (SMA-I) are very limited. It is difficult to quantify the motor abilities of these…”
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Neurological development and iron supplementation in healthy late-preterm neonates: a randomized double-blind controlled trial by Luciano, R., Romeo, D. M., Mancini, G., Sivo, S., Dolci, C., Velli, C., Turriziani Colonna, A., Vento, G., Romagnoli, C., Mercuri, E. M.

“…Late-preterm infants (LPT) are at increased risk for long-term neurodevelopmental sequelae and iron deficiency. The aim of the study is to assess the positive…”
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Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions by 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.

“…•First study exploring cognitive profile in DMD boys without intellectual disability.•Specific cognitive trends, affecting working memory and executive…”
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A bone remodeling model governed by cellular micromechanics and physiologically based pharmacokinetics by Bahia, M.T., Hecke, M.B., Mercuri, E.G.F., Pinheiro, M.M.

“…This study describes a mathematical model for bone remodeling that integrates the bone cells activities with the pharmacological dynamics for bone-seeking…”
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Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study by 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

“…The aim of the study was to assess different outcome measures in a cohort of ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in order to…”
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients by Fiorillo, C, Astrea, G, Savarese, M, Cassandrini, D, Brisca, G, Trucco, F, Pedemonte, M, Trovato, R, Ruggiero, L, Vercelli, L, D'Amico, A, Tasca, G, Pane, M, Fanin, M, Bello, L, Broda, P, Musumeci, O, Rodolico, C, Messina, S, Vita, G L, Sframeli, M, Gibertini, S, Morandi, L, Mora, M, Maggi, L, Petrucci, A, Massa, R, Grandis, M, Toscano, A, Pegoraro, E, Mercuri, E, Bertini, E, Mongini, T, Santoro, L, Nigro, V, Minetti, C, Santorelli, F M, Bruno, C

“…Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and…”
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Muscle histology vs MRI in Duchenne muscular dystrophy by KINALI, M, ARECHAVALA-GOMEZA, V, QUINLIVAN, R. M, GOSALAKKAL, J. A, JAYAWANT, S, NADEAU, A, HUGHES-CARRE, L, MANZUR, A. Y, MERCURI, E, MORGAN, J. E, STRAUB, V, BUSHBY, K, CIRAK, S, SEWRY, C, RUTHERFORD, M, MUNTONI, F, GLOVER, A, GUGLIERI, M, FENG, L, HOLLINGSWORTH, K. G, HUNT, D, JUNGBLUTH, H, ROPER, H. P

“…There are currently no effective treatments to halt the muscle breakdown in Duchenne muscular dystrophy (DMD), although genetic-based clinical trials are being…”
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Natural history of Ullrich congenital muscular dystrophy by NADEAU, A, KINALI, M, MUNTONI, F, MAIN, M, JIMENEZ-MALLEBRERA, C, ALOYSIUS, A, CLEMENT, E, NORTH, B, MANZUR, A. Y, ROBB, S. A, MERCURI, E

“…To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including…”
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Cranial ultrasound evaluation in term neonates by Luciano, R., Bersani, I., Mancini, G., Vento, G., Mercuri, E.

“…Term neonates (TN) are not routinely submitted to cranial ultrasound scan (CUS), since they are not considered at high risk for developing cerebral lesions. To…”
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Longitudinal data of neuropsychological profile in a cohort of Duchenne muscular dystrophy boys without cognitive impairment by 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.

“…•A typical neuropsychological profile emerged for our cohort of DMD boys.•The data show the stability of the neuropsychological profile over time.•The data…”
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Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping by Mercuri, E., Seferian, A.M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Deconinck, Nicolas, Van Coster, Rudy, Vanlander, Arnaud, Seferian, Andreea, De Lucia, Silvana, Gidaro, Teresa, Brande, Laura Vanden, Servais, Laurent, Kirschner, Janbernd, Borell, Sabine, Mercuri, Eugenio, Brogna, Claudia, Pane, Marika, Fanelli, Lavinia, Norcia, Giulia, Muntoni, Francesco, Brusa, Chiara, Chesshyre, Mary, Maresh, Kate, Pitchforth, Jaqueline, Schottlaender, Lucia, Scoto, Mariacristina, Silwal, Arpana, Trucco, Fedrica

“…•First clinical trial of eteplirsen in patients with DMD aged 6 to 48 months.•Safety experience was consistent with the known safety profile of…”
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Functional changes in Duchenne muscular dystrophy by Mazzone, E, Vasco, G, Sormani, M P, Torrente, Y, Berardinelli, A, Messina, S, D'Amico, A, Doglio, L, Politano, L, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Mercuri, E

“…Objective: The aim of the study was to assess different outcome measures in a cohort of ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in…”
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Influence of different mechanical stimuli in a multi-scale mechanobiological isotropic model for bone remodelling by Mercuri, E.G.F, Daniel, A.L, Hecke, M.B, Carvalho, L

“…Highlights • Study of the biological response to different mechanical stimuli in a cellular dynamics model for bone remodelling. • Coupling of mechanical and…”
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Reliability of the North Star Ambulatory Assessment in a multicentric setting by 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

“…Abstract The aim of this study was to investigate the suitability of the North Star Ambulatory Assessment as a possible outcome measure in multicentric…”
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Development of a patient‐reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM by Klingels, K, Mayhew, A G, Mazzone, E S, Duong, T, Decostre, V, Werlauff, U, Vroom, E, Mercuri, E, Goemans, N M, Eagle, M, De Groot, I, Main, M, Messina, S, Campion, G, Servais, L, Van den Hauwe, M, Es, E, Pane, M, Buccella, F, Kuijer, J, Ceradini, F, Henricson, E, McDonald, C, Florence, J

“…Aim To develop a patient‐reported outcome measure (PROM) assessing upper limb function related to activities of daily living (ADL) that cannot be observed in a…”
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Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy by 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

“…To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10…”
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M.I.1 New methods for assessing disease progression in neuromuscular disorders: Assessment of strength and function by Mercuri, E

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Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study by MERCURI, E, MESSINA, S, BOFFI, P, CASSANDRINI, D, LAVERDA, A, MOGGIO, M, MORANDI, L, MORONI, I, PANE, M, PEZZANI, R, PICHIECCHIO, A, PINI, A, BRUNO, C, MINETTI, C, MONGINI, T, MOTTARELLI, E, RICCI, E, RUGGIERI, A, SAREDI, S, SCUDERI, C, TESSA, A, TOSCANO, A, TORTORELLA, G, MORA, M, TREVISAN, C. P, UGGETTI, C, VASCO, G, SANTORELLI, F. M, BERTINI, E, PEGORARO, E, COMI, G. P, D'AMICO, A, AIELLO, C, BIANCHERI, R, BERARDINELLI, A

“…Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with…”
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