Showing 1 - 20 results of 21 for search 'Francesco Muntoni', query time: 0.08s Refine Results
  1. 1
    Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene

    Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene by Yunsong Jiang, Liani G. Devito, Francesco Muntoni, Lyn Healy, Francesco Saverio Tedesco

    Published 2025-03-01
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  2. 2
    Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice.

    Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice. by Jinhong Meng, Carl F Adkin, Shi-wen Xu, Francesco Muntoni, Jennifer E Morgan

    Published 2011-03-01
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  3. 3
    Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells

    Golodirsen restores DMD transcript imbalance in Duchenne Muscular Dystrophy patient muscle cells by Rachele Rossi, Silvia Torelli, Marc Moore, Pierpaolo Ala, Jennifer Morgan, Jyoti Malhotra, Francesco Muntoni

    Published 2024-11-01
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  4. 4
    Duchenne muscular dystrophy: recent insights in brain related comorbidities

    Duchenne muscular dystrophy: recent insights in brain related comorbidities by Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen, Konstantina Tetorou, Aurelie Goyenvalle, Francesco Muntoni

    Published 2025-02-01
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  5. 5
    Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment.

    Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment. by Palittiya Sintusek, Francesco Catapano, Napat Angkathunkayul, Elena Marrosu, Simon H Parson, Jennifer E Morgan, Francesco Muntoni, Haiyan Zhou

    Published 2016-01-01
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  6. 6
    Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle.

    Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. by Martin Brockington, Silvia Torelli, Paul S Sharp, Ke Liu, Sebahattin Cirak, Susan C Brown, Dominic J Wells, Francesco Muntoni

    Published 2010-12-01
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  7. 7
    Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

    Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies. by Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley

    Published 2016-01-01
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  8. 8
    A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain

    A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain by Francesco Catapano, Reem Alkharji, Darren Chambers, Simran Singh, Artadokht Aghaeipour, Jyoti Malhotra, Patrizia Ferretti, Rahul Phadke, Francesco Muntoni

    Published 2025-05-01
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  9. 9
    Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy.

    Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy. by Chalermchai Mitrpant, Paul Porensky, Haiyan Zhou, Loren Price, Francesco Muntoni, Sue Fletcher, Steve D Wilton, Arthur H M Burghes

    Published 2013-01-01
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  10. 10
    Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duchenne Muscular Dystrophy.

    Safety, Tolerability, and Pharmacokinetics of SMT C1100, a 2-Arylbenzoxazole Utrophin Modulator, following Single- and Multiple-Dose Administration to Pediatric Patients with Duche... by Valeria Ricotti, Stefan Spinty, Helen Roper, Imelda Hughes, Bina Tejura, Neil Robinson, Gary Layton, Kay Davies, Francesco Muntoni, Jonathon Tinsley

    Published 2016-01-01
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  11. 11
    Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

    Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. by Elizabeth Stevens, Silvia Torelli, Lucy Feng, Rahul Phadke, Maggie C Walter, Peter Schneiderat, Ayad Eddaoudi, Caroline A Sewry, Francesco Muntoni

    Published 2013-01-01
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  12. 12
    Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling

    Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling by SungWoo Choi, Giulia Ferrari, Louise A Moyle, Kirsty Mackinlay, Naira Naouar, Salma Jalal, Sara Benedetti, Christine Wells, Francesco Muntoni, Francesco Saverio Tedesco

    Published 2022-09-01
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  13. 13
    Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy.

    Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. by Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni

    Published 2013-01-01
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  14. 14
    A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.

    A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. by Gemma L Walmsley, Virginia Arechavala-Gomeza, Marta Fernandez-Fuente, Margaret M Burke, Nicole Nagel, Angela Holder, Rachael Stanley, Kate Chandler, Stanley L Marks, Francesco Muntoni, G Diane Shelton, Richard J Piercy

    Published 2010-01-01
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  15. 15
    Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study

    Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protect... by John P Bourke, Gillian Watson, Francesco Muntoni, Stefan Spinty, Helen Roper, Michela Guglieri, Chris Speed, Elaine McColl, Ashish Chikermane, Sandeep Jayawant, Satish Adwani, Tracey Willis, Jennifer Wilkinson, Andrew Bryant, Thomas Chadwick, Ruth Wood, Kate Bushby

    Published 2018-12-01
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  16. 16
    Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.

    Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. by Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera

    Published 2013-01-01
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  17. 17
    Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials.

    Upper Limb Evaluation in Duchenne Muscular Dystrophy: Fat-Water Quantification by MRI, Muscle Force and Function Define Endpoints for Clinical Trials. by Valeria Ricotti, Matthew R B Evans, Christopher D J Sinclair, Jordan W Butler, Deborah A Ridout, Jean-Yves Hogrel, Ahmed Emira, Jasper M Morrow, Mary M Reilly, Michael G Hanna, Robert L Janiczek, Paul M Matthews, Tarek A Yousry, Francesco Muntoni, John S Thornton

    Published 2016-01-01
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  18. 18
    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy

    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy by Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y. Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J. Ward, Erik H. Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators, Association Française contre les Myopathies, The NorthStar Clinical Network, Craig McDonald

    Published 2025-01-01
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  19. 19
    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.

    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy. by Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J Ward, Erik H Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators, Association Française contre les Myopathies, NorthStar Clinical Network, Craig McDonald

    Published 2025-01-01
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  20. 20
    Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study

    Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study by Francesco Muntoni, Giovanni Baranello, Pinki Munot, Mariacristina Scoto, Adnan Manzur, Marion Main, Evelin Milev, Lianne Abbott, Victoria Selby, Amy Wolfe, Annemarie Rohwer, Catherine Rye, Sarah Gregson, Grainne NicFhirleinn, Rosanna Raab, Heather McMurchie, Angela Topping, Faye Mason, Jennie Sheehan, Felicity Vann, Steph Wadsworth, José Longatto, Lindsey Pallant, Nick Emery, Jenny Moustoukas, Sarah D’Urso, Kay White, Efthymia Panagiotopoulou

    Published 2025-01-01
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