Condition

Hydrocephalus Skeletal Anomalies

Find a Doctor

FM
Areas of Expertise

Francesco Muntoni

University College London
Male

Bio

Francesco Muntoni is in London, United Kingdom. They have been an author on 444 peer reviewed articles and participated in 4 clinical trials in the past 15 years. In particular, they have been an author on 2 peer reviewed articles regarding Hydrocephalus Skeletal Anomalies.

Areas of Expertise

Contact

London, ENG, GB

Latest Research

Latest Advance
Study
  • Condition: Duchenne muscular dystrophy
  • Journal: Neurology
  • Treatment Used: Golodirsen
  • Number of Patients: 12
  • Published —
The study researched the outcomes of Golodirsen in patients with Duchenne muscular dystrophy.
Latest Advance
Study
  • Condition: X-Linked Myotubular Myopathy (XLMTM)
  • Journal: Archives of disease in childhood
  • Treatment Used: Respiratory Support
  • Number of Patients: 145
  • Published —
This study explored respiratory support and associated mortality risk in RECENSUS, particularly among patients ?5 years old who received respiratory support at birth; this subgroup closely matches patients in the ASPIRO trial of gene therapy for X-linked myotubular myopathy (muscle disorder; XLMTM).
Latest Advance
Study
  • Condition: Later-Onset Spinal Muscular Atrophy
  • Journal: Muscle & nerve
  • Treatment Used: Nusinersen
  • Number of Patients: 14
  • Published —
This study analyzed the effectiveness of Nusinersen to treat patients with spinal muscular atrophy (SMA; rare neuromuscular disorder).

Clinical Trials

Clinical Trial
  • Status: Recruiting
  • Participants: 1050
  • Start Date: May 2010
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Clinical Trial
  • Status: Recruiting
  • Participants: 5000
  • Start Date: April 1, 2010
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Clinical Trial
  • Status: Recruiting
  • Participants: 500
  • Start Date: April 2010
Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth

All Publications
View All

Publication
Study
  • Journal: Science (New York, N.Y.)
  • Published —
RNA-targeted drugs for neuromuscular diseases.
Publication
Study
  • Journal: Epigenomics
  • Published —
Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy.

Contact

London, ENG, GB

Insurance

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