Hasil Pencarian - Francesco Muntoni

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  1. 1
    The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al.

    The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al. oleh Haiyan Zhou, Francesco Muntoni

    Diterbitkan 2020-10-01
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  2. 2
    Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation

    Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation oleh Georgia Stimpson, Mary Chesshyre, Mary Chesshyre, Giovanni Baranello, Giovanni Baranello, Francesco Muntoni, Francesco Muntoni

    Diterbitkan 2021-12-01
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  3. 3
    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

    LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness oleh Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni, Francesco Muntoni

    Diterbitkan 2020-08-01
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  4. 4
    CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability

    CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability oleh Jinhong Meng, Francesco Muntoni, Jennifer Morgan

    Diterbitkan 2018-07-01
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  5. 5
    Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping

    Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping oleh Giulia Ferrari, Francesco Muntoni, Francesco Saverio Tedesco

    Diterbitkan 2020-03-01
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  6. 6
    Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy

    Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy oleh Elena Marrosu, Pierpaolo Ala, Francesco Muntoni, Haiyan Zhou

    Diterbitkan 2017-09-01
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  7. 7
    Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease

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

    Diterbitkan 2017-04-01
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  8. 8
    MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications

    MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications oleh Rachele Rossi, Rachele Rossi, Silvia Torelli, Silvia Torelli, Pierpaolo Ala, Pierpaolo Ala, William Weston, William Weston, Jennifer Morgan, Jennifer Morgan, Jyoti Malhotra, Francesco Muntoni, Francesco Muntoni

    Diterbitkan 2023-05-01
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  9. 9
    Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy

    Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy oleh Jinhong Meng, Marc Moore, John Counsell, Francesco Muntoni, Linda Popplewell, Jennifer Morgan

    Diterbitkan 2022-06-01
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  10. 10
    Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)

    Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) oleh Liani G. Devito, Valentina M. Lionello, Francesco Muntoni, Francesco Saverio Tedesco, Lyn Healy

    Diterbitkan 2023-06-01
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  11. 11
    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. oleh Jinhong Meng, Carl F Adkin, Shi-wen Xu, Francesco Muntoni, Jennifer E Morgan

    Diterbitkan 2011-03-01
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  12. 12
    Development of a novel startle response task in Duchenne muscular dystrophy.

    Development of a novel startle response task in Duchenne muscular dystrophy. oleh Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil Harrison, William Mandy, David Skuse, Francesco Muntoni

    Diterbitkan 2022-01-01
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  13. 13
    Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement.

    Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. oleh Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, SMA REACH UK network

    Diterbitkan 2022-01-01
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  14. 14
    Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy

    Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy oleh Francesco Catapano, Irina Zaharieva, Mariacristina Scoto, Elena Marrosu, Jennifer Morgan, Francesco Muntoni, Haiyan Zhou

    Diterbitkan 2016-01-01
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  15. 15
    LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort

    LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort oleh Alberto A. Zambon, Deborah Ridout, Marion Main, Rachael Mein, Rahul Phadke, Francesco Muntoni, Anna Sarkozy

    Diterbitkan 2020-10-01
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  16. 16
    Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD

    Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD oleh Sara Aguti, Véronique Bolduc, Pierpaolo Ala, Mark Turmaine, Carsten G. Bönnemann, Francesco Muntoni, Haiyan Zhou

    Diterbitkan 2020-09-01
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  17. 17
    Response of plasma microRNAs to nusinersen treatment in patients with SMA

    Response of plasma microRNAs to nusinersen treatment in patients with SMA oleh Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou

    Diterbitkan 2022-07-01
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  18. 18
    Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

    Muscle magnetic resonance imaging involvement patterns in nemaline myopathies oleh Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy

    Diterbitkan 2023-07-01
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  19. 19
    Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay

    Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay oleh Stuart P. Adams, Emma Gravett, Natalie Kent, Susanne Kricke, Adeboye Ifederu, Mariacristina Scoto, Salma Samsuddin, Francesco Muntoni

    Diterbitkan 2021-10-01
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  20. 20
    Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy

    Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy oleh Alexander M. Rossor, James N. Sleigh, Michael Groves, Francesco Muntoni, Mary M. Reilly, Casper C. Hoogenraad, Giampietro Schiavo

    Diterbitkan 2020-03-01
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