F. Muntoni

The relationship between lean body mass and bone mineral content in paediatric health and disease

Nicola Crabtree, M S Kibirige, J N Fordham et al. · Bone · 2004 · 209 citations

Obesity, Nutrition, Childhood Obesity +13

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

Maria Giovanna Marrosu, Simona Vaccargiu, A. Vannelli et al. · Neurology · 1998 · 168 citations

Mendelian Disorder, Neurological Disorder, Charcot-marie-tooth Disease +11

Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease

Anita K. Simonds, Sally L. Davidson Ward, S. Heather et al. · European Respiratory Journal · 2000 · 139 citations · Full text

Asthma, Skeletal Disease, Gross Anatomy +15

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the <i>GARS</i> gene

Paul A. James, M. Zameel Cader, F. Muntoni et al. · Neurology · 2006 · 81 citations

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

Mark I. Rees, T. Lewis, Behnaz Vafa et al. · Human Genetics · 2001 · 76 citations

Molecular Pharmacology, Molecular Physiology, Signal Transduction +8