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Silvia Torelli

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Elizabeth Stevens; Dimira E Tambunan; Silvia Torelli; Christopher A Walsh; Tobias Willer; Shu Yau; Diclehan Orhan; Mustafa A Salih; Caroline A Sewry; Derek Stemple; Lina Brodd; Kevin P Campbell; Keren J Carss; Sebahattin Cirak; William B Dobyns; Gregory M Enns; Lucy Feng; A Reghan Foley; Göknur Haliloglu; Matthew Hurles; Amanda Krause; Yung-Yao Lin; Melanie Manning; M Chiara Manzini; Francesco Muntoni
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Sebahattin Cirak; Aileen Reghan Foley; Ralf Herrmann; Matt Hurles; Alisa Kamynina; Rudolf Korinthenberg; Cheryl Longman; Gianni Marrosu; Daniel Michele; Steven A Moore; Peter Nürnberg; Vincent Plagnol; Helen Roper; Caroline A Sewry; Elizabeth Stevens; Silvia Torelli; Thomas Voit; Petr Vondracek; Tobias Willer; Shu Yau; Lina Brodd; Kevin P Campbell; Francesco Muntoni
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Sebahattin Cirak; Lucy Feng; Jennifer E Morgan; Karen Anthony; Virginia Arechavala-Gomeza; Caroline Sewry; Silvia Torelli; Francesco Muntoni
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.

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All Publications

2013: Elizabeth Stevens; Dimira E Tambunan; Silvia Torelli; Christopher A Walsh; Tobias Willer; Shu Yau; Diclehan Orhan; Mustafa A Salih; Caroline A Sewry; Derek Stemple; Lina Brodd; Kevin P Campbell; Keren J Carss; Sebahattin Cirak; William B Dobyns; Gregory M Enns; Lucy Feng; A Reghan Foley; Göknur Haliloglu; Matthew Hurles; Amanda Krause; Yung-Yao Lin; Melanie Manning; M Chiara Manzini; Francesco Muntoni
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
American journal of human genetics 2013;92(3):354-65.
2013: Sebahattin Cirak; Aileen Reghan Foley; Ralf Herrmann; Matt Hurles; Alisa Kamynina; Rudolf Korinthenberg; Cheryl Longman; Gianni Marrosu; Daniel Michele; Steven A Moore; Peter Nürnberg; Vincent Plagnol; Helen Roper; Caroline A Sewry; Elizabeth Stevens; Silvia Torelli; Thomas Voit; Petr Vondracek; Tobias Willer; Shu Yau; Lina Brodd; Kevin P Campbell; Francesco Muntoni
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain : a journal of neurology 2013;136(Pt 1):269-81.
2012: Sebahattin Cirak; Lucy Feng; Jennifer E Morgan; Karen Anthony; Virginia Arechavala-Gomeza; Caroline Sewry; Silvia Torelli; Francesco Muntoni
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.
Molecular therapy : the journal of the American Society of Gene Therapy 2012;20(2):462-7.
2011: Francesco Muntoni; Silvia Torelli; Dominic J Wells; Susan C Brown
Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
Current opinion in neurology 2011;24(5):437-42.
2011: Sebahattin Cirak; George Dickson; Lucy Feng; Maria Elena Garralda; Michela Guglieri; Ryszard Kole; Jennifer E Morgan; Stephen Abbs; Karen Anthony; Virginia Arechavala-Gomeza; John Bourke; Kate Bushby; Caroline Sewry; Stephen B Shrewsbury; Volker Straub; Silvia Torelli; Dominic J Wells; Stephen D Wilton; Matthew J A Wood; Francesco Muntoni
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.
Lancet 2011;378(9791):595-605.
2008: Emma M Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C Brown; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Cheryl Longman; Rachael Mein; Stephen Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Archives of neurology 2008;65(1):137-41.
2007: Francesco Muntoni; Martin Brockington; C Godfrey; M Ackroyd; Stephanie Robb; Adnan Y Manzur; Maria Kinali; Eugenio Mercuri; M Kaluarachchi; Lucy Feng; Cecilia Jimenez-Mallebrera; E Clement; Silvia Torelli; Caroline A Sewry; Susan C Brown
Muscular dystrophies due to defective glycosylation of dystroglycan.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(3):129-35.
2007: Marcella Neri; Silvia Torelli; Sue Brown; Isabella Ugo; Patrizia Sabatelli; Luciano Merlini; Pietro Spitali; Paola Rimessi; Francesca Gualandi; Caroline Sewry; Alessandra Ferlini; Francesco Muntoni
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Neuromuscular disorders : NMD 2007;17(11-12):913-8.
2007: Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2006: Caroline Godfrey; Diana Escolar; Martin Brockington; Emma M Clement; Rachael Mein; Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Susan C Brown; Caroline A Sewry; Mary Rutherford; Yehuda Shapira; Stephen Abbs; Francesco Muntoni
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Annals of neurology 2006;60(5):603-10.
2005: Silvia Torelli; Susan C Brown; Martin Brockington; Nazanin F Dolatshad; Cecilia Jimenez; Leigh Skordis; Lucy H Feng; Luciano Merlini; David Hilton Jones; Norma B Romero; Ulla M Wewer; Thomas Voit; Caroline A Sewry; Satoru Noguchi; Ichizo Nishino; Francesco Muntoni
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Neuromuscular disorders : NMD 2005;15(12):836-43.
2005: Susan C Brown; Silvia Torelli; Isabella Ugo; Floriana De Biasia; Emily V Howman; Ellen Poon; Joanna Britton; Kay E Davies; Francesco Muntoni
Syncoilin upregulation in muscle of patients with neuromuscular disease.
Muscle & nerve 2005;32(6):715-25.
2005: Nazanin F Dolatshad; Martin Brockington; Silvia Torelli; L Skordis; U Wever; Dominic J Wells; Francesco Muntoni; Susan C Brown
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
Experimental cell research 2005;309(2):370-8.
2005: Martin Brockington; Silvia Torelli; Paola Prandini; Chiara A Boito; Nazanin F Dolatshad; Cheryl Longman; Susan C Brown; Francesco Muntoni
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Human molecular genetics 2005;14(5):657-65.
2004: Silvia Torelli; Susan C Brown; Cecilia Jimenez-Mallebrera; Lucy Feng; Francesco Muntoni; Caroline A Sewry
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.
Neuropathology and applied neurobiology 2004;30(5):540-5.
2004: Francesco Muntoni; Martin Brockington; Silvia Torelli; Susan C Brown
Defective glycosylation in congenital muscular dystrophies.
Current opinion in neurology 2004;17(2):205-9.
2004: Susan C Brown; Silvia Torelli; Martin Brockington; Yeliz Yuva; Cecilia Jimenez; Lucy Feng; Louise Anderson; Isabella Ugo; Stephan Kroger; Kate Bushby; Thomas Voit; Caroline Sewry; Francesco Muntoni
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
The American journal of pathology 2004;164(2):727-37.
2003: Pervin Dinçer; Burcu Balci; Yeliz Yuva; Beril Talim; Martin Brockington; Deniz Dinçel; Silvia Torelli; Sue Brown; Gülsev Kale; Göknur Haliloglu; Filiz Ozbas Gerçeker; Rengul Cetin-Atalay; Cengiz Yakicier; Cheryl Longman; Francesco Muntoni; Haluk Topaloglu
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Neuromuscular disorders : NMD 2003;13(10):771-8.
2003: Francesco Muntoni; Silvia Torelli; Alessandra Ferlini
Dystrophin and mutations: one gene, several proteins, multiple phenotypes.
Lancet neurology 2003;2(12):731-40.
2003: Cheryl Longman; Martin Brockington; Silvia Torelli; Cecilia Jimenez-Mallebrera; Colin Kennedy; Nofal Khalil; Lucy Feng; Ravindra K Saran; Thomas Voit; Luciano Merlini; Caroline A Sewry; Susan C Brown; Francesco Muntoni
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Human molecular genetics 2003;12(21):2853-61.
2003: Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2003: Haluk Topaloglu; Martin Brockington; Yeliz Yuva; Beril Talim; Göknur Haliloglu; D Blake; Silvia Torelli; Susan C Brown; Francesco Muntoni
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
2003: Cecilia Jiménez-Mallebrera; Silvia Torelli; Susan C Brown; Lucy Feng; Martin Brockington; Caroline A Sewry; Daniel Beltrán-Valero de Bernabé; Francesco Muntoni
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(3):129-37.
2003: Kim E Wells; Silvia Torelli; Qi Lu; Susan C Brown; Terence Partridge; Francesco Muntoni; Dominic J Wells
Relocalization of neuronal nitric oxide synthase (nNOS) as a marker for complete restoration of the dystrophin associated protein complex in skeletal muscle.
Neuromuscular disorders : NMD 2003;13(1):21-31.
2002: Francesco Muntoni; Martin Brockington; Derek J Blake; Silvia Torelli; Susan C Brown
Defective glycosylation in muscular dystrophy.
Lancet 2002;360(9343):1419-21.
2001: Martin Brockington; Yeliz Yuva; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Ralf Herrmann; Louise V B Anderson; Rumaisa Bashir; Jean-Marc Burgunder; S Fallet; Norma B Romero; M Fardeau; Volker Straub; G Storey; C Pollitt; Isabelle Richard; Caroline A Sewry; Kate Bushby; Thomas Voit; Derek J Blake; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Human molecular genetics 2001;10(25):2851-9.
2001: Martin Brockington; Derek J Blake; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Chris P Ponting; Brigitte Estournet; Norma B Romero; Eugenio Mercuri; Thomas Voit; Caroline A Sewry; Pascale Guicheney; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
American journal of human genetics 2001;69(6):1198-209.
1999: Silvia Torelli; Alessandra Ferlini; L Obici; Caroline Sewry; Francesco Muntoni
Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.
Neuromuscular disorders : NMD 1999;9(8):541-51.
1997: Marcello Villanova; Alessandro Malandrini; Patrizia Sabatelli; C A Sewry; Paolo Toti; Silvia Torelli; J Six; G Scarfó; Lucio Palma; F Muntoni; Stefano Squarzoni; Piero Tosi; Nadir M Maraldi; Gianni Guazzi
Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.
Acta neuropathologica 1997;94(6):567-71.
1997: Jonathan D F Wadsworth; Silvia Torelli; Kevina B Doorty; Peter N Strong
Structural diversity among subtypes of small-conductance Ca2+-activated potassium channels.
Archives of biochemistry and biophysics 1997;346(1):151-60.
1997: Marcello Villanova; C Sewry; Alessandro Malandrini; Paolo Toti; F Muntoni; Luciano Merlini; Silvia Torelli; Piero Tosi; Nadir M Maraldi; Gianni Guazzi
Immunolocalization of several laminin chains in the normal human central and peripheral nervous system.
Journal of submicroscopic cytology and pathology 1997;29(3):409-13.
1996: Silvia Torelli; Francesco Muntoni
Alternative splicing of dystrophin exon 4 in normal human muscle.
Human genetics 1996;97(4):521-3.
1992: Giuliana M Lauro; Cinzia Fabrizi; Rita Businaro; Lorenzo Fumagalli; Silvia Torelli; Fulvia Gremo
Human astroglial but not microglial cells synthesize alpha 2-macroglobulin in vitro.
Italian journal of neurological sciences 1992;13(8):661-5.
1992: Maria Grazia Ennas; D Cocchia; E Silvetti; Valeria Sogos; A Riva; Silvia Torelli; Fulvia Gremo
Immunocompetent cell markers in human fetal astrocytes and neurons in culture.
Journal of neuroscience research 1992;32(3):424-36.
1992: Beatrice Macchi; B Caronti; D Cocchia; Fulvia Gremo; Silvia Torelli; Valeria Sogos; Enzo Bonmassar; Giuliana M Lauro
Correlation between P19 presence and MHC class II expression in human fetal astroglial cells cocultured with HTLV-I donor cells.
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 1992;10(3):231-41.
1992: Silvia Torelli; Valeria Sogos; Maria Grazia Ennas; Francesco Muntoni; A Clerk; Peter N Strong; Fulvia Gremo
Dystrophin immunoreactivity in normal and Duchenne human fetal neurons in culture.
Journal of neuroscience research 1992;32(1):116-25.
1991: Beatrice Macchi; B Caronti; Fulvia Gremo; Silvia Torelli; Enzo Bonmassar; Giuliana M Lauro
HTLV-I neurotropism. In vitro studies.
Acta neurologica 1991;13(2):179-83.
1991: Silvia Torelli; Valeria Sogos; Maria Grazia Ennas; C Marcello; D Cocchia; Fulvia Gremo
Human fetal brain cultures: a model to study neural proliferation, differentiation and immunocompetence.
Advances in experimental medicine and biology 1991;296():121-34.
1990: Valeria Sogos; Federico Bussolino; E Pilia; Silvia Torelli; Fulvia Gremo
Acetylcholine-induced production of platelet-activating factor by human fetal brain cells in culture.
Journal of neuroscience research 1990;27(4):706-11.
1990: Marco Presta; Maria Grazia Ennas; Silvia Torelli; G Ragnotti; Fulvia Gremo
Synthesis of urokinase-type plasminogen activator and of type-1 plasminogen activator inhibitor in neuronal cultures of human fetal brain: stimulation by phorbol ester.
Journal of neurochemistry 1990;55(5):1647-54.
1990: Silvia Torelli; Patrizia Dell'Era; Maria Grazia Ennas; Valeria Sogos; Fulvia Gremo; G Ragnotti; Marco Presta
Basic fibroblast growth factor in neuronal cultures of human fetal brain.
Journal of neuroscience research 1990;27(1):78-83.
1989: Federico Bussolino; Silvia Torelli; E Stefanini; Fulvia Gremo
Platelet-activating factor production occurs through stimulation of cholinergic and dopaminergic receptors in the chick retina.
Journal of lipid mediators 1989;1(5):283-8.
1989: Silvia Torelli; Valeria Sogos; Fulvia Gremo
Muscarinic receptor subclasses in retinal cultures: effect of corticosterone.
Journal of neuroscience research 1989;23(4):457-61.
1989: Silvia Torelli; Valeria Sogos; M A Marzilli; M D'Atri; Fulvia Gremo
Developmental expression of intermediate filament proteins in the chick embryo retina: in vivo and in vitro comparison.
Experimental biology 1989;48(4):187-96.
1988: Maria Grazia Ennas; Silvia Torelli; Valeria Sogos; C Marcello; Giuseppina Parodo; U Lecca; Fulvia Gremo
[Presence of immunocompetent cells in human fetal brain].
Annali di ostetricia, ginecologia, medicina perinatale 1988;109(5):279-83.
1987: Fulvia Gremo; M Palomba; A M Marchisio; C Marcello; M L Mulas; Silvia Torelli
Heterogeneity of muscarinic cholinergic receptors in the developing human fetal brain: regional distribution and characterization.
Early human development 1987;15(3):165-77.