Search Results - "Mercuri, Eugenio"

Spinal muscular atrophy — insights and challenges in the treatment era by Mercuri, Eugenio, Pera, Maria Carmela, Scoto, Mariacristina, Finkel, Richard, Muntoni, Francesco

“…Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by deletion or mutation of SMN1 . Four subtypes exist, characterized by…”
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Muscular dystrophies by Mercuri, Eugenio, MD, Muntoni, Francesco, Prof

“…Summary Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An…”
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Duchenne muscular dystrophy by Duan, Dongsheng, Goemans, Nathalie, Takeda, Shin’ichi, Mercuri, Eugenio, Aartsma-Rus, Annemieke

“…Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted…”
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Risdiplam in Type 1 Spinal Muscular Atrophy by Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicolas, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent

“…The small molecule risdiplam increased the expression of SMN protein in blood in 21 infants with type 1 spinal muscular atrophy. Post hoc clinical features of…”
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Childhood spinal muscular atrophy: controversies and challenges by Mercuri, Eugenio, Prof, Bertini, Enrico, MD, Iannaccone, Susan T, Prof

“…Summary Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration of motor neurons in the spinal cord and is caused by mutations…”
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The ever-expanding spectrum of congenital muscular dystrophies by Mercuri, Eugenio, Muntoni, Francesco

“…Congenital muscular dystrophies are a highly heterogeneous group of conditions. In the last few years the identification of several new genes encoding for both…”
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Spinal muscular atrophy by D'Amico, Adele, Mercuri, Eugenio, Tiziano, Francesco D, Bertini, Enrico

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord,…”
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209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands by Finkel, Richard, Bertini, Enrico, Muntoni, Francesco, Mercuri, Eugenio

“…Highlights • An updated classification for SMA is presented. • The utility and limitations of animal models in SMA is discussed. • Biomarkers that are…”
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Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis by Coratti, Giorgia, Cutrona, Costanza, Pera, Maria Carmela, Bovis, Francesca, Ponzano, Marta, Chieppa, Fabrizia, Antonaci, Laura, Sansone, Valeria, Finkel, Richard, Pane, Marika, Mercuri, Eugenio

“…Abstract Background There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients. Main body The aim…”
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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy by Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio

“…Objective To continue evaluation of the long‐term efficacy and safety of eteplirsen, a phosphorodiamidate morpholino oligomer designed to skip DMD exon 51 in…”
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Revised upper limb module for spinal muscular atrophy: Development of a new module by Mazzone, Elena S., Mayhew, Anna, Montes, Jacqueline, Ramsey, Danielle, Fanelli, Lavinia, Young, Sally Dunaway, Salazar, Rachel, De Sanctis, Roberto, Pasternak, Amy, Glanzman, Allan, Coratti, Giorgia, Civitello, Matthew, Forcina, Nicola, Gee, Richard, Duong, Tina, Pane, Marika, Scoto, Mariacristina, Pera, Maria Carmela, Messina, Sonia, Tennekoon, Gihan, Day, John W., Darras, Basil T., Vivo, Darryl C., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio

“…ABSTRACT Introduction There is a growing need for a robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the…”
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Antepartum and intrapartum factors preceding neonatal hypoxic-ischemic encephalopathy by Martinez-Biarge, Miriam, Diez-Sebastian, Jesus, Wusthoff, Courtney J, Mercuri, Eugenio, Cowan, Frances M

“…To determine whether antepartum factors alone, intrapartum factors alone, or both in combination, are associated with term neonatal hypoxic-ischemic…”
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Safety update: risdiplam clinical trial programme for spinal muscular atrophy (SMA) by Laurent, Servais, Giovanni, Baranello, Claudia, Chiriboga, Basil, Darras, Marianne, Gerber, Ksenija, Gorni, Birgit, Jaber, Tammy, McIver, Renata, Scalco, Eugenio, Mercuri

“…Pooled risdiplam (EVRYSDI®) safety data were analysed from 465 symptomatic patients with Types 1–3 SMA in the FIREFISH (NCT02913482), SUNFISH (NCT02908685) and…”
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JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment- naïve patients with spinal muscular atrophy (SMA) by Mariacristina, Scoto, Claudio, Bruno, Dirk, Fischer, Janbernd, Kirschner, Eugenio, Mercuri, Imogen, Carruthers, Marianne, Gerber, Heidemarie, Kletzl, Teresa, Gidaro, Francesco, Muntoni

“…Risdiplam (EVRYSDI®) is an oral survival of motor neuron 2 (SMN2) pre-mRNA splicing modifier approved by the EMA and MHRA for the treatment of patients aged ≥2…”
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Muscle MRI in inherited neuromuscular disorders: Past, present, and future by Mercuri, Eugenio, Pichiecchio, Anna, Allsop, Joanna, Messina, Sonia, Pane, Marika, Muntoni, Francesco

“…Interest in muscle MRI has been largely stimulated in the last few years by the recognition of an increasing number of genetic defects in the field of…”
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Risk Factors for Neonatal Arterial Ischemic Stroke: The Importance of the Intrapartum Period by Martinez-Biarge, Miriam, PhD, Cheong, Jeanie L.Y., MD, Diez-Sebastian, Jesus, PhD, Mercuri, Eugenio, PhD, Dubowitz, Lilly M.S., MD, Cowan, Frances M., PhD

“…Objective To investigate risk factors for neonatal arterial ischemic stroke (NAIS), and compare them with those present in term controls and infants with…”
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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype by Zollino, Marcella, Orteschi, Daniela, Murdolo, Marina, Lattante, Serena, Battaglia, Domenica, Stefanini, Chiara, Mercuri, Eugenio, Chiurazzi, Pietro, Neri, Giovanni, Marangi, Giuseppe

“…Marcella Zollino and colleagues report mutations in the chromatin regulator KANSL1 in persons with 17q21.31 syndrome. This disorder is marked by distinctive…”
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Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy by Mayhew, Anna, Mazzone, Elena S, Eagle, Michelle, Duong, Tina, Ash, Maria, Decostre, Valerie, Vandenhauwe, Marlene, Klingels, Katrijn, Florence, Julaine, Main, Marion, Bianco, Flaviana, Henrikson, Erik, Servais, Laurent, Campion, Giles, Vroom, Elizabeth, Ricotti, Valeria, Goemans, Natalie, Mcdonald, Craig, Mercuri, Eugenio

“…Aim An international Clinical Outcomes Group consisting of clinicians, scientists, patient advocacy groups, and industries identified a need for a scale to…”
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Application of the Sleep Disturbance Scale for Children (SDSC) in infants and toddlers (6–36 months) by Romeo, Domenico M., Cordaro, Giorgia, Macchione, Elisa, Venezia, Ilaria, Brogna, Claudia, Mercuri, Eugenio, Bruni, Oliviero

“…The aim of the present study is to assess the psychometric properties of the Sleep Disturbance Scale for Children (SDSC) in an Italian population of infants…”
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Longitudinal natural history of type I spinal muscular atrophy: a critical review by Mercuri, Eugenio, Lucibello, Simona, Perulli, Marco, Coratti, Giorgia, de Sanctis, Roberto, Pera, Maria Carmela, Pane, Marika, Montes, Jacqueline, de Vivo, Darryl C, Darras, Basil T, Kolb, Stephen J, Finkel, Richard S

“…The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies…”
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