Francesco Muntoni - Nanotechnology

Author Information

Francesco Muntoni is affiliated with the Dubowitz Neuromuscular Centre and the MRC Centre for Neuromuscular Diseases at the UCL Great Ormond Street Institute of Child Health in London, UK. Additionally, he is associated with the NIHR Great Ormond Street Hospital Biomedical Research Centre at the same institute.

Research Contributions

Francesco Muntoni has made significant contributions to the field of neuromuscular diseases, with a particular focus on Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). His recent work in 2022 includes studies on the respiratory phenotype and muscle pathology in Troponin-T type 1 (TNNT1)-related nemaline myopathy, novel biomarkers for brain dystrophin deficiency in DMD, and the efficacy and safety of Vamorolone in DMD. He has also investigated the role of dystrophin isoform deficiency in motor function in DMD, population pharmacokinetics for nusinersen, and the revised upper limb module in SMA types II and III. His research has extended to using CRISPR/Cas9 technology for genetic corrections in DMD patient-derived cells.

Aliases

F. Muntoni, F Muntoni, Francesco Muntoni, F. M. Muntoni, F Mf Muntoni

Publication and Citation Metrics

Metric	Value
Citation Count	55,339
H-index	120
Paper Count	1,566

Publications:

Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings

DOI: 10.1016/j.nmd.2022.01.014

Year: 2022

Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency.

DOI: 10.1093/brain/awac048

Year: 2022

Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls

DOI: 10.1016/j.nmd.2022.02.009

Year: 2022

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy

DOI: 10.1001/jamanetworkopen.2021.44178

Year: 2022

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

DOI: 10.1002/jcsm.12914

Year: 2022

Corrigendum to ‘Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen’ Neuromuscular Disorders 31 (2021) 310–318/doi: 10.1016/j.nmd.2021.02.014.

DOI: 10.1016/j.nmd.2022.01.002

Year: 2022

Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

DOI: 10.1016/j.nmd.2021.10.009

Year: 2022

Can Breathing Pattern Assessment Predict the Need of Ventilatory Support in Treated SMA1 Infants?

DOI: 10.1164/rccm.202111-2577LE

Year: 2022

Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications

DOI: 10.1038/s41598-022-07671-w

Year: 2022

CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model

DOI: 10.1101/2022.02.17.480850

Year: 2022

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