Francesco Muntoni

发表

Seven cases of Pompe disease from Greece

F. Muntoni, A. Reuser, M. Kroos, 2006, Journal of Inherited Metabolic Disease.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, K. Bushby, F. Muntoni, 2009, The Lancet Neurology.

Deletions in the 5' region of dystrophin and resulting phenotypes.

F. Muntoni, M. Bobrow, S. Hodgson, 1994, Journal of medical genetics.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

F. Muntoni, N. Laing, V. Dubowitz, 2012, Neuromuscular Disorders.

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

J. Bourke, K. Bushby, F. Muntoni, 2011, The Lancet.

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

F. Muntoni, C. Sewry, S. Torelli, 2012, Neuromuscular Disorders.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

S. Çırak, H. Jungbluth, C. Sewry, 2012, Neuromuscular Disorders.

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

I. Graham, K. Bushby, L. Popplewell, 2009, The Lancet Neurology.

Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008

E. Mercuri, F. Muntoni, A. Manzur, 2012, Neuromuscular Disorders.

Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study

F. Muntoni, J. Six, L. Palma, 1997, Acta Neuropathologica.

Central core disease: new findings in an old disease.

F. Muntoni, C. Sewry, Francesco Muntoni, 2003, Brain : a journal of neurology.

Inherited disorders of the extracellular matrix.

F. Muntoni, C. Sewry, Francesco Muntoni, 1999, Current opinion in neurology.

Gene deletions in spinal muscular atrophy.

K. Davies, F. Muntoni, V. Dubowitz, 1996, Journal of medical genetics.

Congenital myopathies

F. Muntoni, M. Scoto, A. Manzur, 2015, Neurology.

A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.

L. Mestroni, M. Giacca, F. Muntoni, 1996, Human molecular genetics.

The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related

J. Taylor, Francesco Muntoni, Caroline A. Sewry, 1997, Neuropathology and applied neurobiology.

Expression of laminin subunits in congenital muscular dystrophy

F. Muntoni, V. Dubowitz, C. Sewry, 1995, Neuromuscular Disorders.