Search Results - "Muntoni, Francesco"

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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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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Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction by Jungbluth, Heinz, Treves, Susan, Zorzato, Francesco, Sarkozy, Anna, Ochala, Julien, Sewry, Caroline, Phadke, Rahul, Gautel, Mathias, Muntoni, Francesco

“…Key Points Congenital myopathies are clinically and genetically heterogeneous conditions characterized by muscle weakness and distinctive structural…”
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RNA-targeted drugs for neuromuscular diseases by Ferlini, Alessandra, Goyenvalle, Aurelie, Muntoni, Francesco

“…Progress with antisense oligonucleotide therapies opens a path for future development Neuromuscular diseases (NMDs) are common and heterogeneous conditions…”
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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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Lancet Commission: Stem cells and regenerative medicine by Cossu, Giulio, Birchall, Martin, Brown, Tracey, De Coppi, Paolo, Culme-Seymour, Emily, Gibbon, Sahra, Hitchcock, Julian, Mason, Chris, Montgomery, Jonathan, Morris, Steve, Muntoni, Francesco, Napier, David, Owji, Nazanin, Prasad, Aarathi, Round, Jeff, Saprai, Prince, Stilgoe, Jack, Thrasher, Adrian, Wilson, James

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Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease by Sardone, Valentina, Zhou, Haiyan, Muntoni, Francesco, Ferlini, Alessandra, Falzarano, Maria Sofia

“…Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy are neurodegenerative genetic diseases characterized primarily by…”
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Development of a novel startle response task in Duchenne muscular dystrophy by Maresh, Kate, Papageorgiou, Andriani, Ridout, Deborah, Harrison, Neil, Mandy, William, Skuse, David, Muntoni, Francesco

“…Duchenne muscular dystrophy (DMD), an X-linked childhood-onset muscular dystrophy caused by loss of the protein dystrophin, can be associated with…”
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Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches by Mariot, Virginie, Joubert, Romain, Hourdé, Christophe, Féasson, Léonard, Hanna, Michael, Muntoni, Francesco, Maisonobe, Thierry, Servais, Laurent, Bogni, Caroline, Le Panse, Rozen, Benvensite, Olivier, Stojkovic, Tanya, Machado, Pedro M., Voit, Thomas, Buj-Bello, Ana, Dumonceaux, Julie

“…Muscular dystrophies are characterized by weakness and wasting of skeletal muscle tissues. Several drugs targeting the myostatin pathway have been used in…”
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Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy by Hammond, Suzan M., Hazell, Gareth, Shabanpoor, Fazel, Saleh, Amer F., Bowerman, Melissa, Sleigh, James N., Meijboom, Katharina E., Zhou, Haiyan, Muntoni, Francesco, Talbot, Kevin, Gait, Michael J., Wood, Matthew J. A.

“…The development of antisense oligonucleotide therapy is an important advance in the identification of corrective therapy for neuromuscular diseases, such as…”
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Necroptosis mediates myofibre death in dystrophin-deficient mice by Morgan, Jennifer E., Prola, Alexandre, Mariot, Virginie, Pini, Veronica, Meng, Jinhong, Hourde, Christophe, Dumonceaux, Julie, Conti, Francesco, Relaix, Frederic, Authier, Francois-Jerôme, Tiret, Laurent, Muntoni, Francesco, Bencze, Maximilien

“…Duchenne muscular dystrophy (DMD) is a severe degenerative disorder caused by mutations in the dystrophin gene. Dystrophin-deficient muscles are characterised…”
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Dystrophin and mutations: one gene, several proteins, multiple phenotypes by Muntoni, Francesco, Torelli, Silvia, Ferlini, Alessandra

“…A large and complex gene on the X chromosome encodes dystrophin. Many mutations have been described in this gene, most of which affect the expression of the…”
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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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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study by Cirak, Sebahattin, MD, Arechavala-Gomeza, Virginia, PhD, Guglieri, Michela, MD, Feng, Lucy, PhD, Torelli, Silvia, PhD, Anthony, Karen, PhD, Abbs, Stephen, PhD, Garralda, Maria Elena, Prof, Bourke, John, MD, Wells, Dominic J, Prof, Dickson, George, Prof, Wood, Matthew JA, MD PhD, Wilton, Steve D, Prof, Straub, Volker, Prof, Kole, Ryszard, Prof, Shrewsbury, Stephen B, MD, Sewry, Caroline, Prof, Morgan, Jennifer E, PhD, Bushby, Kate, Prof, Muntoni, Francesco, Prof

“…Summary Background We report clinical safety and biochemical efficacy from a dose-ranging study of intravenously administered AVI-4658 phosphorodiamidate…”
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Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study by Voit, Thomas, Prof, Topaloglu, Haluk, Prof, Straub, Volker, Prof, Muntoni, Francesco, Prof, Deconinck, Nicolas, MD, Campion, Giles, MD, De Kimpe, Sjef J, PhD, Eagle, Michelle, PhD, Guglieri, Michela, MD, Hood, Steve, PhD, Liefaard, Lia, PhD, Lourbakos, Afrodite, PhD, Morgan, Allison, BSc, Nakielny, Joanna, MB, Quarcoo, Naashika, PhD, Ricotti, Valeria, MB, Rolfe, Katie, MSc, Servais, Laurent, MD, Wardell, Claire, DPhil, Wilson, Rosamund, PhD, Wright, Padraig, MD, Kraus, John E, MD

“…Summary Background Duchenne muscular dystrophy is caused by dystrophin deficiency and muscle deterioration and preferentially affects boys…”
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Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy by Zhang, Qiang, Hong, Ying, Brusa, Chiara, Scoto, Mariacristina, Cornell, Nikki, Patel, Parth, Baranello, Giovanni, Muntoni, Francesco, Zhou, Haiyan

“…Neuroinflammation is an emerging clinical feature in spinal muscular atrophy (SMA). Characterizing neuroinflammatory cytokines in cerebrospinal fluid (CSF) in…”
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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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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness by Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco

“…Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency…”
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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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The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al by Zhou, Haiyan, Muntoni, Francesco

“…1 In this study, we combined the survival motor neuron (SMN)‐restoring antisense oligonucleotide therapy with adeno‐associated virus (AAV)‐mediated myostatin…”
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