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Publications by Francesco Muntoni
A Mutation in the Thyroid Hormone Receptor Alpha Gene
New England Journal of Medicine
Medicine
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
American Journal of Human Genetics
Genetics
Natural History of Charcot-Marie-Tooth Disease During Childhood
Annals of Neurology
Neurology
60. Intramuscular and Systemic Induction of the N-Truncated Dystrophin by Out-Of-Frame Exon 2 Skipping Restores Muscle Function in the Dup2 Mouse, Providing Further Support for a Therapeutic Pathway for 5’ DMD Mutations
Molecular Therapy
Molecular Medicine
Molecular Biology
Pharmacology
Medicine
Genetics
Drug Discovery
Acetazolamide Can Improve Symptoms and Signs in Ion Channel-Related Congenital Myopathy
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Aberrant Regulation of Epigenetic Modifiers Contributes to the Pathogenesis in Patients With Selenoprotein N ‐ Related Myopathies
Human Mutation
Genetics
Multiple Roles of Integrin-Α3 at the Neuromuscular Junction
Journal of Cell Science
Cell Biology
Donor Satellite Cell Engraftment Is SignificantlyAugmented When the Host Niche Is Preserved and Endogenous Satellite Cells Are Incapacitated
Stem Cells
Medicine
Molecular Medicine
Developmental Biology
Cell Biology
Comparative Proteomic Analyses of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Muscles: Changes Contributing to Preserve Muscle Function in Becker Muscular Dystrophy Patients
Journal of Cachexia, Sarcopenia and Muscle
Orthopedics
Sports Medicine
Physiology
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