Publications

Journals

• Kinali M; Arechavala-Gomeza V; Feng L; Cirak S; Hunt D; Adkin C; Guglieri M; Ashton E; et alAbbs S; Nihoyannopoulos P; Garrolda ME; Rutherford M; Mcculley C; Popplewell L; Graham IR; Dickson G; Wood MJA; Wells DJ; Wilton SD; Kole R; Straub V; Bushby K; Sewry C; Morgan JE; Muntoni F. (Oct 2009). 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. LANCET NEUROL. 8:918-928. DOI.
• Jimenez-Mallebrera C; Torelli S; Feng L; Kim J; Godfrey C; Clement E; Mein R; Abbs S; et alBrown SC; Campbell KP; Kroger S; Talim B; Topaloglu H; Quinlivan R; Roper H; Childs AM; Kinali M; Sewry CA; Muntoni F. (Oct 2009). A Comparative Study of alpha-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of alpha-Dystroglycan Does Not Consistently Correlate with Clinical Severity. BRAIN PATHOL. 19:596-611. DOI.
• Mercuri E; Manzur A; Main M; Alsopp J; Muntoni F. (Jun 2009). Is there post-natal muscle growth in amyoplasia? A sequential MRI study. NEUROMUSCULAR DISORD. 19:444-445. DOI.
• McSweeney N; Cowan F; Manzur A; Robb S; Muntoni F. (Jul 2009). Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome. EUR J PAEDIATR NEURO. 13:350-355. DOI.
• Nadeau A; Kinali M; Main M; Jimenez-Mallebrera C; Aloysius A; Clement E; North B; Manzur AY; et alRobb SA; Mercuri E; Muntoni F. (7 Jul 2009). Natural history of Ullrich congenital muscular dystrophy. NEUROLOGY. 73:25-31. DOI.
• Ackroyd MR; Skordis L; Kaluarachchi M; Godwin J; Prior S; Fidanboylu M; Piercy RJ; Muntoni F; et alBrown SC. (Feb 2009). Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. BRAIN. 132:439-451. DOI.
• Clement E; Mercuri E; Godfrey C; Smith J; Robb S; Kinali M; Straub V; Bushby K; et alManzur A; Talim B; Cowan F; Quinlivan R; Klein A; Longman C; McWilliam R; Topaloglu H; Mein R; Abbs S; North K; Barkovich AJ; Rutherford M; Muntoni F. (Nov 2008). Brain Involvement in Muscular Dystrophies with Defective Dystroglycan Glycosylation. ANN NEUROL. 64:573-582. DOI.
• Fernandez-Fuente M; Ames EG; Wagner ML; Zhou H; Strom M; Zammit PS; Mickelson JR; Muntoni F; et alBrown SC; Piercy RJ. (Dec 2008). Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. AM J VET RES. 69:1637-1645.
• Kinali M; Beeson D; Pitt MC; Jungbluth H; Simonds AK; Aloysius A; Cockerill H; Davis T; et alPalace J; Manzur A; Jimenez-Mallebrera C; Sewry C; Muntoni F; Robb SA. (15 Sep 2008). Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges. J NEUROIMMUNOL. 201:6-12. DOI.
• Brown SC; Piercy RJ; Muntoni F; Sewry CA. (Dec 2008). Investigating the pathology of Emery-Dreifuss muscular dystrophy. Biochem Soc Trans. 36:1335-1338. DOI.
• Sewry CA; Jimenez-Mallebrera C; Muntoni F. (Oct 2008). Congenital myopathies. Curr Opin Neurol. 21:569-575. DOI.
• Klein A; Clement E; Mercuri E; Muntoni F. (Sep 2008). Differential diagnosis of congenital muscular dystrophies. EUR J PAEDIATR NEURO. 12:371-377. DOI.
• Otto A; Schmidt C; Luke G; Allen S; Valasek P; Muntoni F; Lawrence-Watt D; Patel K. (1 Sep 2008). Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J CELL SCI. 121:2939-2950. DOI.
• Treves S; Jungbluth H; Muntoni F; Zorzato F. (Jun 2008). Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. CURR OPIN PHARMACOL. 8:319-326. DOI.
• Muntoni F; Brockington M; Godfrey C; Ackroyd M; Robb S; Manzur A; Kinali M; Mercuri E; et alKaluarachchi M; Feng L; Jimenez-Mallebrera C; Clement E; Torelli S; Sewry CA; Brown SC. (Dec 2007). Muscular dystrophies due to defective glycosylation of dystroglycan. Acta Myol. 26:129-135.
• Lampe AK; Zou Y; Sudano D; O'Brien KK; Hicks D; Laval SH; Charlton R; Jimenez-Mallebrera C; et alZhang RZ; Finkel RS; Tennekoon G; Schreiber G; van der Knaap MS; Marks H; Straub V; Flanigan KM; Chu ML; Muntoni F; Bushby KMD; Bonnemann CG. (Jun 2008). Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. HUM MUTAT. 29:809-822. DOI.
• Schessl J; Zou Y; McGrath MJ; Cowling BS; Maiti B; Chin SS; Sewry C; Battini R; et alHu Y; Cottle DL; Rosenblatt M; Spruce L; Ganguly A; Kirschner J; Judkins AR; Golden JA; Goebel HH; Muntoni F; Flanigan KM; Mitchell CA; Bönnemann CG. (Mar 2008). Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest. 118:904-912. DOI.
• Clement EM; Godfrey C; Tan J; Brockington M; Torelli S; Feng L; Brown SC; Jimenez-Mallebrera C; et alSewry CA; Longman C; Mein R; Abbs S; Vajsar F; Schachter H; Muntoni F. (Jan 2008). Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. ARCH NEUROL-CHICAGO. 65:137-141.
• Neri M; Torelli S; Brown S; Ugo I; Sabatelli P; Merlini L; Spitali P; Rimessi P; et alGualandi F; Sewry C; Ferlini A; Muntoni F. (Dec 2007). Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. NEUROMUSCULAR DISORD. 17:913-918. DOI.
• Boor I; Nagtegaal M; Kamphorst W; van der Valk P; Pronk JC; van Horssen J; Dinopoulos A; Bove KE; et alPascual-Castroviejo I; Muntoni F; Estevez R; Scheper GC; van der Knaap MS. (Oct 2007). MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet. ACTA NEUROPATHOL. 114:403-410. DOI.
• Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; et alQuinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur A; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F. (Oct 2007). Refining genotype - phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. BRAIN. 130:2725-2735. DOI.
• Muntoni F; Wells D. (Oct 2007). Genetic treatments in muscular dystrophies. Curr Opin Neurol. 20:590-594. DOI.
• Arechavala-Gomeza V; Graham IR; Popplewell LJ; Adams AM; Aartsma-Rus A; Kinali M; Morgan JE; van Deutekom JC; et alWilton SD; Dickson G; Muntoni F. (Sep 2007). Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum Gene Ther. 18:798-810. DOI.
• Kaufmann P; Muntoni F; International Coordinating Committee for SMA Subcommittee on SMA Clinical Trial Design. (Jun 2007). Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design. Neuromuscul Disord. 17:499-505. DOI.
• Esapa CT; Benson MA; Schroder JE; Martin-Rendon E; Brockington M; Brown SC; Muntoni F; Kroger S; et alBlake DJ. (15 Dec 2002). Functional requirements for fukutin-related protein in the Golgi apparatus. HUM MOL GENET. 11:3319-3331.
• Brockington M; Yuva Y; Prandini P; Brown SC; Torelli S; Benson MA; Herrmann R; Anderson LVB; et alBashir R; Burgunder JM; Fallet S; Romero N; Fardeau M; Straub V; Storey G; Pollitt C; Richard I; Sewry CA; Bushby K; Voit T; Blake DJ; Muntoni F. (1 Dec 2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. HUM MOL GENET. 10:2851-2859.
• Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; et alRomero NB; Mercuri E; Voit T; Sewry CA; Guicheney P; Muntoni F. (Dec 2001). Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET. 69:1198-1209.
• Zhou H; Jungbluth H; Sewry CA; Feng L; Bertini E; Bushby K; Straub V; Roper H; et alRose MR; Brockington M; Kinali M; Manzur A; Robb S; Appleton R; Messina S; D'Amico A; Quinlivan R; Swash M; Müller CR; Brown S; Treves S; Muntoni F. (Aug 2007). Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 130:2024-2036. DOI.
• Ramelli GP; Aloysius A; King C; Davis T; Muntoni F. (May 2007). Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome. Dev Med Child Neurol. 49:367-371. DOI.
• Zorzato F; Jungbluth H; Zhou HY; Muntoni F; Treves S. (2007). Functional effects of mutations identified in patients with multiminicore disease. IUBMB LIFE. 59:14-20. DOI.
• Nowak KJ; Sewry CA; Navarro C; Squier W; Reina C; Ricoy JR; Jayawant SS; Childs AM; et alDobbie JA; Appleton RF; Mountford RC; Walker KR; Clement S; Barois A; Muntoni F; Romero NB; Laing NG. (Feb 2007). Nemaline myopathy caused by absence of alpha-skeletal muscle actin. ANN NEUROL. 61:175-184. DOI.
• Jungbluth H; Zhou H; Sewry CA; Robb S; Treves S; Bitoun M; Guicheney P; Buj-Bello A; et alBönnemann C; Muntoni F. (Apr 2007). Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 17:338-345. DOI.
• Mercuri E; Pichiecchio A; Allsop J; Messina S; Pane M; Muntoni F. (Feb 2007). Muscle MRI in inherited neuromuscular disorders: Past, present, and future. J MAGN RESON IMAGING. 25:433-440. DOI.
• Amthor H; Macharia R; Navarrete R; Schuelke M; Brown SC; Otto A; Voit T; Muntoni F; et alVrbova G; Partridge T; Zammit P; Bunger L; Patel K. (6 Feb 2007). Lack of myostatin results in excessive muscle growth but impaired force generation. P NATL ACAD SCI USA. 104:1835-1840. DOI.
• Piercy RJ; Zhou H; Feng L; Pombo A; Muntoni F; Brown SC. (Apr 2007). Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 17:297-305. DOI.
• Morgan J; Muntoni F. (Mar 2007). Mural cells paint a new picture of muscle stem cells. Nat Cell Biol. 9:249-251. DOI.
• Main M; Mercuri E; Haliloglu G; Baker R; Kinali M; Muntoni F. (Mar 2007). Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?. Neuromuscul Disord. 17:227-230. DOI.
• Kinali M; Main M; Eliahoo J; Messina S; Knight RK; Lehovsky J; Edge G; Mercuri E; et alManzur AY; Muntoni F. (May 2007). Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 11:160-166. DOI.
• Hartley L; Kinali M; Knight R; Mercuri E; Hubner C; Bertini E; Manzur AY; Jimenez-Mallebrera C; et alSewry CA; Muntoni F. (Feb 2007). A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromuscul Disord. 17:174-179. DOI.
• Godfrey C; Escolar D; Brockington M; Clement EM; Mein R; Jimenez-Mallebrera C; Torelli S; Feng L; et alBrown SC; Sewry CA; Rutherford M; Shapira Y; Abbs S; Muntoni F. (Nov 2006). Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. ANN NEUROL. 60:603-610. DOI.
• James PA; Cader MZ; Muntoni F; Childs AM; Crow YJ; Talbot K. (14 Nov 2006). Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. NEUROLOGY. 67:1710-1712.
• Kinali M; Manzur AY; Mercuri E; Gibson BE; Hartley L; Simonds AK; Muntoni F. (Oct 2006). UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy. Pediatr Rehabil. 9:351-364.
• Zhou H; Brockington M; Jungbluth H; Monk D; Stanier P; Sewry CA; Moore GE; Muntoni F. (Nov 2006). Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am J Hum Genet. 79:859-868. DOI.
• Zhou H; Yamaguchi N; Xu L; Wang Y; Sewry C; Jungbluth H; Zorzato F; Bertini E; et alMuntoni F; Meissner G; Treves S. (15 Sep 2006). Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 15:2791-2803. DOI.
• Lehtokari VL; Pelin K; Sandbacka M; Ranta S; Donner K; Muntoni F; Sewry C; Angelini C; et alBushby K; Van den Bergh P; Iannaccone S; Laing NG; Wallgren-Pettersson C. (Sep 2006). Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive Nemaline myopathy. HUM MUTAT. 27:946-956. DOI.
• Kroos M; Manta P; Mavridou I; Muntoni F; Halley D; Van Der Helm R; Zaifeiriou D; Van der Ploeg A; et alReuser A; Michelakakis H. (Aug 2006). Seven cases of Pompe disease from Greece. J INHERIT METAB DIS. 29:556-563. DOI.
• Jimenez-Mallebrera C; Maioli MA; Kim J; Brown SC; Feng L; Lampe AK; Bushby K; Hicks D; et alFlanigan KM; Bonnemann C; Sewry CA; Muntoni F. (Oct 2006). A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord. 16:571-582. DOI.
• Garralda ME; Muntoni F; Cunniff A; Caneja AD. (Jul 2006). Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment. Eur J Paediatr Neurol. 10:186-191. DOI.
• Jimenez-Mallebrera C; Brown SC; Sewry CA; Muntoni F. (Apr 2005). Congenital muscular dystrophy: molecular and cellular aspects. CELL MOL LIFE SCI. 62:809-823. DOI.
• Smith GC; Kinali M; Prasad SK; Bonne G; Muntoni F; Pennell DJ; Nihoyannopoulos P. (2006). Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 8:723-730. DOI.
• Van Reeuwijk J; Maugenre S; van den Elzen C; Verrips A; Bertini E; Muntoni F; Merlini L; Scheffer H; et alBrunner HG; Guicheney P; van Bokhoven H. (May 2006). The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. HUM MUTAT. 27:453-459. DOI.
• Kinali M; Messina S; Mercuri E; Lehovsky J; Edge G; Manzur AY; Muntoni F. (Jun 2006). Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study. Dev Med Child Neurol. 48:513-518. DOI.
• Mercuri E; D'Amico A; Tessa A; Berardinelli A; Pane M; Messina S; van Reeuwijk J; Bertini E; et alMuntoni F; Santorelli FM. (Jul 2006). POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord. 16:446-448. DOI.
• Ducreux S; Zorzato F; Ferreiro A; Jungbluth H; Muntoni F; Monnier N; Muller CR; Treves S. (15 Apr 2006). Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. BIOCHEM J. 395:259-266. DOI.
• Brockington M; Muntoni F. (Dec 2005). The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies. Acta Myol. 24:217-221.
• Gualandi F; Rimessi P; Trabanelli C; Spitali P; Neri M; Patarnello T; Angelini C; Yau SC; et alAbbs S; Muntoni F; Calzolari E; Ferlini A. (29 Mar 2006). Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5 ' mutation hot spot of the dystrophin gene. GENE. 370:26-33. DOI.
• Muntoni F; Bonne G; Goldfarb LG; Mercuri E; Piercy RJ; Burke M; Yaou RB; Richard P; et alRécan D; Shatunov A; Sewry CA; Brown SC. (May 2006). Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain. 129:1260-1268. DOI.
• Jungbluth H; Zhou H; Bertini E; Straub V; Bushby K; Robb S; Treves S; Sewry C; et alMuntoni F. (Jan 2006). Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene. DEV MED CHILD NEUROL. 48:30-31.
• Knight R; Wilson B; Davis T; Muntoni F. (Jan 2006). Ulna length in children with neuromuscular disorders: correlation with height and forced vital capacity. DEV MED CHILD NEUROL. 48:28-29.
• Ramelli GP; Bagnall A; King C; Davies T; Muntoni F. (Jan 2006). Gastrostomy placement in paediatric neuromuscular patients: indications and outcome. DEV MED CHILD NEUROL. 48:27-28.
• Jungbluth H; Zhou H; Treves S; Sewry C; Muntoni F. (Jan 2006). Expanding range of phenotypes associated with mutations in the skeletal muscle ryanodine receptor gene. DEV MED CHILD NEUROL. 48:7-8.
• Mercuri E; Topaloglu H; Brockington M; Berardinelli A; Santorelli F; Rutherford M; Talim B; Ricci E; et alVoit T; Muntoni F. (Jan 2006). The spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. DEV MED CHILD NEUROL. 48:6-6.
• Main M; Kinali M; Haliloglu G; Mercuri E; Baker R; Muntoni F. (Jan 2006). Serial casting of the ankles in Duchenne muscular dystrophy: an alternative to surgery?. DEV MED CHILD NEUROL. 48:5-5.
• Kinali M; Knight RK; Main M; Mercuri E; Messina S; Manzur AY; Muntoni F. (Jan 2006). Predictive factors for the development of scoliosis in Duchenne Muscular Dystrophy. DEV MED CHILD NEUROL. 48:4-5.
• Muntoni F; Bushby K; Manzur AY. (Mar 2006). Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK. Neuromuscul Disord. 16:210-219. DOI.
• Mercuri E; Topaloglu H; Brockington M; Berardinelli A; Pichiecchio A; Santorelli F; Rutherford M; Talim B; et alRicci E; Voit T; Muntoni F. (Feb 2006). Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol. 63:251-257. DOI.
• Mercuri E; Messina S; Battini R; Berardinelli A; Boffi P; Bono R; Bruno C; Carboni N; et alCini C; Colitto F; D'Amico A; Minetti C; Mirabella M; Mongini T; Morandi L; Dlamini N; Orcesi S; Pelliccioni M; Pane M; Pini A; Swan AV; Villanova M; Vita G; Main M; Muntoni F; Bertini E. (Feb 2006). Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord. 16:93-98. DOI.
• Manilal S; Recan D; Sewry CA; Hoeltzenbein M; Llense S; Leturcq F; Deburgrave N; Barbot JC; et alMan NT; Muntoni F; Wehnert M; Kaplan JC; Morris GE. (May 1998). Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. HUM MOL GENET. 7:855-864.
• Manzati E; Bigoni S; Gualandi F; Scapoli C; Guarna M; Pini G; Zappella M; Muntoni F; et alHajek G; Calzolari E; Ferlini A. (Oct 1999). Genetic and transcription analysis in Rett syndrome. AM J HUM GENET. 65:A478-A478.
• Mestroni L; Miocic S; Sinagra G; Brodsky GL; Di Barletta MR; Mateddu A; Toniolo D; Muntoni F. (Oct 1999). Autosomal dominant dilated cardiomyopathy with subclinical skeletal muscle involvement. AM J HUM GENET. 65:A335-A335.
• Ferlini A; Patarnello T; Dunckley M; Muntoni F. (Oct 1999). LINE1 element tails: a possible role in alternative splicing relevant for primates genome evolution?. AM J HUM GENET. 65:A186-A186.
• Brodsky GL; Muntoni F; Di Barletta MR; Miocic S; Sinagra G; Sewry C; Toniolo D; Mestroni L. (Feb 2000). A lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. J AM COLL CARDIOL. 35:202A-202A.
• Taylor MRG; Brodsky GL; Muntoni F; Sinagra G; Di Lenarda A; Robinson M; Fain P; Mestroni L. (Feb 2001). Lamin A/C gene mutations in families with dilated cardiomyopathy, conduction system defects, and skeletal muscle disease. J AM COLL CARDIOL. 37:194A-194A.
• Fisher I; Morgan J; Abraham D; Brittan H; Dunn M; Muntoni F. (Sep 2001). Glucocorticoid-induced changes in the gene expression of dystrophic mouse muscle. NEUROMUSCULAR DISORD. 11:663-663.
• Cohen N; Dunckley MG; Rimessi P; Gualandi F; Ferlini A; Muntoni F. (Sep 2001). An intronic mutation in the dystrophin gene causing X-linked dilated cardiomyopathy may indicate the presence of splicing regulatory motifs. NEUROMUSCULAR DISORD. 11:639-640.
• Brockington M; Prandini P; Brown SC; Sewry CA; Blake DJ; Muntoni F. (Sep 2001). A new gene encoding a fukutin-like protein and its analysis in patients with congenital muscular dystrophy. NEUROMUSCULAR DISORD. 11:635-635.
• Taylor MRG; Brodsky G; Moss A; Muntoni F; Sinagra G; Di Lenarda A; Carniel E; Robinson M; et alFain P; Mestroni L. (23 Oct 2001). Molecular epidemiology of lamin A/C gene mutations in dilated cardiomyopathy. CIRCULATION. 104:135-135.
• Blake DJ; Brockington M; Muntoni F; Benson MA. (Nov 2001). Golgi-localisation of fukutin and fukutin-related protein: implications for muscular dystrophy. MOL BIOL CELL. 12:85A-85A.
• Gualandi F; Trabanelli C; Rimessi P; Calzolari E; Toffolatti L; Patarnello T; Kunz G; Muntoni F; et alFerlini A. (Aug 2003). Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J MED GENET. 40.
• Rimessi P; Gualandi F; Duprez L; Spitali P; Neri M; Merlini L; Calzolari E; Muntoni F; et alFerlini A. (1 Feb 2005). Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. AM J MED GENET A. 132A:391-394. DOI.
• Giatrakos N; Kinali M; Stephens D; Dawson D; Muntoni F; Nihoyannopoulos P. (Jun 2006). Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. Heart. 92:840-842. DOI.
• Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; et alStraub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F. (27 Dec 2005). Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 65:1930-1935. DOI.
• Senderek J; Krieger M; Stendel C; Bergmann C; Moser M; Breitbach-Faller N; Rudnik-Schöneborn S; Blaschek A; et alWolf NI; Harting I; North K; Smith J; Muntoni F; Brockington M; Quijano-Roy S; Renault F; Herrmann R; Hendershot LM; Schröder JM; Lochmüller H; Topaloglu H; Voit T; Weis J; Ebinger F; Zerres K. (Dec 2005). Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 37:1312-1314. DOI.
• Torelli S; Brown SC; Brockington M; Dolatshad NF; Jimenez C; Skordis L; Feng LH; Merlini L; et alJones DH; Romero N; Wewer U; Voit T; Sewry CA; Noguchi S; Nishino I; Muntoni F. (Dec 2005). Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscul Disord. 15:836-843. DOI.
• van Reeuwijk J; Janssen M; van den Elzen C; Beltran-Valero de Bernabé D; Sabatelli P; Merlini L; Boon M; Scheffer H; et alBrockington M; Muntoni F; Huynen MA; Verrips A; Walsh CA; Barth PG; Brunner HG; van Bokhoven H. (Dec 2005). POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 42:907-912. DOI.
• Brown SC; Torelli S; Ugo I; De Biasia F; Howman EV; Poon E; Britton J; Davies KE; et alMuntoni F. (Dec 2005). Syncoilin upregulation in muscle of patients with neuromuscular disease. MUSCLE NERVE. 32:715-725. DOI.
• Muntoni F; Voit T. (Nov 2005). 133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands. Neuromuscul Disord. 15:794-801. DOI.
• Bertini E; Burghes A; Bushby K; Estournet-Mathiaud B; Finkel RS; Hughes RA; Iannaccone ST; Melki J; et alMercuri E; Muntoni F; Voit T; Reitter B; Swoboda KJ; Tiziano D; Tizzano E; Topaloglu H; Wirth B; Zerres K. (Nov 2005). 134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord. 15:802-816. DOI.
• Muntoni F; Zafeiriou DI; Jimenez C; Reuser A; Sewry C. (Nov 2005). A case presenting with delayed motor milestones. Neuromuscul Disord. 15:817-818. DOI.
• Goodwin FC; Muntoni F. (Nov 2005). Cardiac involvement in muscular dystrophies: molecular mechanisms. Muscle Nerve. 32:577-588. DOI.
• Mercuri E; Jungbluth H; Muntoni F. (Oct 2005). Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. CURR OPIN NEUROL. 18:526-537.
• Dolatshad NF; Brockington M; Torelli S; Skordis L; Wever U; Wells DJ; Muntoni F; Brown SC. (1 Oct 2005). Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells. Exp Cell Res. 309:370-378. DOI.
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• Lucioli S; Giusti B; Mercuri E; Vanegas OC; Lucarini L; Pietroni V; Urtizberea A; Ben Yaou R; et alde Visser M; van der Kooi AJ; Bönnemann C; Iannaccone ST; Merlini L; Bushby K; Muntoni F; Bertini E; Chu ML; Pepe G. (14 Jun 2005). Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology. 64:1931-1937. DOI.
• Muntoni F; Bushby K; van Ommen G. (Jun 2005). 128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands. Neuromuscul Disord. 15:450-457. DOI.
• Mercuri E; Brown SC; Nihoyannopoulos P; Poulton J; Kinali M; Richard P; Piercy RJ; Messina S; et alSewry C; Burke MM; McKenna W; Bonne G; Muntoni F. (May 2005). Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve. 31:602-609. DOI.
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• Muntoni F. (Apr 2005). Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. Neuromuscul Disord. 15:269-270. DOI.
• Brockington M; Torelli S; Prandini P; Boito C; Dolatshad NF; Longman C; Brown SC; Muntoni F. (1 Mar 2005). Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet. 14:657-665. DOI.
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• Vasta I; Kinali M; Messina S; Guzzetta A; Kapellou O; Manzur A; Cowan F; Muntoni F; et alMercuri E. (Jan 2005). Can clinical signs identify newborns with neuromuscular disorders?. J Pediatr. 146:73-79. DOI.
• Ip P; Knight R; Dokal I; Manzur AY; Muntoni F. (2005). Peripheral neuropathy--a novel finding in dyskeratosis congenita. Eur J Paediatr Neurol. 9:85-89. DOI.
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• Kinali M; Banks LM; Mercuri E; Manzur AY; Muntoni F. (Dec 2004). Bone mineral density in a paediatric spinal muscular atrophy population. Neuropediatrics. 35:325-328. DOI.
• Jungbluth H; Davis MR; Müller C; Counsell S; Allsop J; Chattopadhyay A; Messina S; Mercuri E; et alLaing NG; Sewry CA; Bydder G; Muntoni F. (Dec 2004). Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord. 14:785-790. DOI.
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• Kinali M; Jungbluth H; Eunson LH; Sewry CA; Manzur AY; Mercuri E; Hanna MG; Muntoni F. (Oct 2004). Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscul Disord. 14:689-693. DOI.
• Messina S; Hartley L; Main M; Kinali M; Jungbluth H; Muntoni F; Mercuri E. (Oct 2004). Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics. 35:262-266. DOI.
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• Patel K; Muntoni F. (Sep 2004). Inducing muscle hypertrophy as a therapeutic strategy for muscular dystrophies. 122nd ENMC International Workshop, Naarden, The Netherlands, 28-30 November 2003. Neuromuscul Disord. 14:519-525. DOI.
• Muntoni F. (Sep 2004). Journey into muscular dystrophies caused by abnormal glycosylation. Acta Myol. 23:79-84.
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• Longman C; Mercuri E; Cowan F; Allsop J; Brockington M; Jimenez-Mallebrera C; Kumar S; Rutherford M; et alToda T; Muntoni F. (Aug 2004). Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Arch Neurol. 61:1301-1306. DOI.
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• Muntoni F; Fisher I; Morgan JE; Abraham D. (Oct 2002). Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research. Neuromuscul Disord. 12 Suppl 1:S162-S165.
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• Brockington M; Blake DJ; Brown SC; Muntoni F. (Mar 2002). The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. Neuromuscul Disord. 12:233-234.
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• Merlini L; Estournet-Mathiaud B; Iannaccone S; Melki J; Muntoni F; Rudnik-Schöneborn S; Topaloglu H; Vita G; et alVoit T. (Feb 2002). 90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands. Neuromuscul Disord. 12:201-210.
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• Dubowitz V; Kinali M; Main M; Mercuri E; Muntoni F. (2002). Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy. Eur J Paediatr Neurol. 6:153-159.
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• Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; et alRomero N; Voit T; Sewry CA; Guicheney P; Muntoni F. (Oct 2001). A novel glycosyltransferase is mutated in a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan. AM J HUM GENET. 69:229-229.
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• Jungbluth H; Sewry CA; Squier W; Newsom-Davies J; Buj-Bello A; Mercuri E; Manzur AY; Muntoni F. (Sep 2001). Abnormal neuromuscular transmission in a case of myotubular (centronuclear) myopathy. NEUROMUSCULAR DISORD. 11:625-625.
• Brown SC; Sewry CA; Brockington M; Muntoni F. (Sep 2001). alpha-dystroglycan expression and secondary merosin deficiency. NEUROMUSCULAR DISORD. 11:636-636.
• Mercuri E; Kinali M; van der Poel LA; Jungbluth H; Brockington M; Sewry C; Brown SC; Muntoni F. (Sep 2001). Clinical and muscle MRI findings in congenital muscular dystrophy with distal laxity. NEUROMUSCULAR DISORD. 11:638-638.
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• Skordis LA; Dunckley MG; Muntoni F. (Sep 2001). Modification of RNA splicing in the survival motor neuron 2 (SMN2) gene as a therapeutic option in spinal muscular atrophy. NEUROMUSCULAR DISORD. 11:646-646.
• Afifi A; Olpin SE; Dalton A; Leonard JV; Land J; Muntoni F; Lee PJ. (Sep 2001). Mutation and biochemical analysis in carnitine palmitoyl transferase type II (CPTII) deficiency suggests complex genotype/phenotype interactions. J MED GENET. 38:S69-S69.
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• Muntoni F. (28 Aug 2001). Is a muscle biopsy in Duchenne dystrophy really necessary?. Neurology. 57:574-575.
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• Brown SC; Muntoni F; Sewry CA. (Apr 2001). Non-sarcolemmal muscular dystrophies. Brain Pathol. 11:193-205.
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• Laing N; Knowak K; Durling H; North K; Nonaka I; Hutchinson D; von Kaisenberg C; Muntoni F; et alPelin K; Wallgren-Pettersson C. (Sep 2000). Actin and nemaline-related myopathy. BRAIN PATHOL. 10:595-595.
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• Brockington M; Sewry CA; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; et alVoit T; Muntoni F. (Feb 2000). Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet. 66:428-435. DOI.
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• Sewry CA; Muntoni F. (Oct 1999). Inherited disorders of the extracellular matrix. Curr Opin Neurol. 12:519-526.
• D'Alessandro M; Naom I; Ferlini A; Sewry C; Dubowitz V; Muntoni F. (Oct 1999). Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?. Hum Genet. 105:308-313.
• Nowak KJ; Wattanasirichaigoon D; Goebel HH; Wilce M; Pelin K; Donner K; Jacob RL; Hübner C; et alOexle K; Anderson JR; Verity CM; North KN; Iannaccone ST; Müller CR; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson AG; Swoboda KJ; Vigneron J; Wallgren-Pettersson C; Beggs AH; Laing NG. (Oct 1999). Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet. 23:208-212. DOI.
• Minassian BA; Auranen MP; Scherer SW; Villanova M; Muntoni F; Fardeau M; Kalimo H. (Oct 1999). The gene for X-linked Vacuolated Myopathy (XVM), is located in a 14 cM span of Xq28. AM J HUM GENET. 65:A436-A436.
• Mestroni L; Rocco C; Gregori D; Sinagra G; Di Lenarda A; Miocic S; Vatta M; Pinamonti B; et alMuntoni F; Caforio ALP; McKenna WJ; Falaschi A; Giacca M; Camerini F; Heart Muscle Disease Study Grp. (Jul 1999). Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity. J AM COLL CARDIOL. 34:181-190.
• Ferlini A; Sewry C; Melis MA; Mateddu A; Muntoni F. (Jul 1999). X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord. 9:339-346.
• Philpot J; Bagnall A; King C; Dubowitz V; Muntoni F. (Jun 1999). Feeding problems in merosin deficient congenital muscular dystrophy. Arch Dis Child. 80:542-547.
• Pelin K; Hilpela P; Donner K; Sewry C; Akkari PA; Wilton SD; Wattanasirichaigoon D; Bang ML; et alCentner T; Hanefeld F; Odent S; Fardeau M; Urtizberea JA; Muntoni F; Dubowitz V; Beggs AH; Laing NG; Labeit S; de la Chapelle A; Wallgren-Pettersson C. (2 Mar 1999). Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. P NATL ACAD SCI USA. 96:2305-2310.
• Philpot J; Cowan F; Pennock J; Sewry C; Dubowitz V; Bydder G; Muntoni F. (Mar 1999). Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord. 9:81-85.
• Bonne G; Di Barletta MR; Varnous S; Bécane HM; Hammouda EH; Merlini L; Muntoni F; Greenberg CR; et alGary F; Urtizberea JA; Duboc D; Fardeau M; Toniolo D; Schwartz K. (Mar 1999). Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 21:285-288. DOI.
• Mahjneh I; Bushby K; Anderson L; Muntoni F; Tolvanen-Mahjneh H; Bashir R; Pizzi A; Brockington M; et alMarconi G. (Feb 1999). Merosin-positive congenital muscular dystrophy: A large inbred family. NEUROPEDIATRICS. 30:22-28.
• Philpot J; Muntoni F. (23 Jan 1999). Limitation of eye movement in merosin-deficient congenital muscular dystrophy. LANCET. 353:297-298.
• Lodi R; Kemp GJ; Muntoni F; Thompson CH; Rae C; Taylor J; Styles P; Taylor DJ. (Jan 1999). Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy - An in vivo P-31 magnetic resonance spectroscopy study. BRAIN. 122:121-130.
• Simonds AK; Muntoni F; Heather S; Fielding S. (Nov 1998). Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax. 53:949-952.
• Manzur AY; Sewry CA; Ziprin J; Dubowitz V; Muntoni F. (Oct 1998). A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. Neuromuscul Disord. 8:467-473.
• Taylor J; Sewry CA; Dubowitz V; Muntoni F. (Oct 1998). Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. Neurology. 51:1116-1120.
• Naom I; D'Alessandro M; Sewry CA; Philpot J; Manzur AY; Dubowitz V; Muntoni F. (Oct 1998). Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. Neuromuscul Disord. 8:495-501.
• Spyrou N; Philpot J; Foale R; Camici PG; Muntoni F. (Sep 1998). Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J. 136:474-476.
• Ferlini A; Galié N; Merlini L; Sewry C; Branzi A; Muntoni F. (Aug 1998). A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 63:436-446. DOI.
• Marrosu MG; Murru MR; Costa G; Murru R; Muntoni F; Cucca F. (Aug 1998). DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population. HUM MOL GENET. 7:1235-1237.
• Muntoni F; Sewry CA. (Jul 1998). Congenital muscular dystrophy - From rags to riches. NEUROLOGY. 51:14-16.
• Marrosu MG; Vaccargiu S; Marrosu G; Vannelli A; Cianchetti C; Muntoni F. (May 1998). Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. NEUROLOGY. 50:1397-1401.
• Mercuri E; Anker S; Philpot J; Sewry C; Dubowitz V; Muntoni F. (May 1998). Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy. PEDIATR NEUROL. 18:399-401.
• Bushby K; Anderson LVB; Pollitt C; Naom I; Muntoni F; Bindoff L. (Apr 1998). Abnormal merosin in adults - A new form of late onset muscular dystrophy not linked to chromosome 6q2. BRAIN. 121:581-588.
• Muntoni F; Lichtarowicz-Krynska EJ; Sewry CA; Manilal S; Recan D; Llense S; Taylor J; Morris GE; et alDubowitz V. (Apr 1998). Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromuscul Disord. 8:72-76.
• Ferlini A; Muntoni F. (14 Jan 1998). The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs. Biochem Biophys Res Commun. 242:401-406. DOI.
• Muntoni F; Taylor J; Sewry CA; Naom I; Dubowitz V. (1998). An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. Eur J Paediatr Neurol. 2:19-26.
• Moghadaszadeh B; Desguerre I; Topaloglu H; Muntoni F; Pavek S; Mayer M; Sewry C; Fardeau M; et alTome FMS; Guicheney P. (1998). Identification of a new locus for congenital muscular dystrophy with rigid spine syndrome to chromosome 1p35-36. EUR J HUM GENET. 6:39-39.
• Melis MA; Muntoni F; Cau M; Loi D; Puddu A; Boccone L; Mateddu A; Cianchetti C; et alCao A. (1998). Novel nonsense mutation (C -> A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. HUM MUTAT. S137-S138.
• Lodi R; Muntoni F; Taylor J; Kumar S; Sewry CA; Blamire A; Styles P; Taylor DJ. (Dec 1997). Correlative MR imaging and P-31-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. NEUROMUSCULAR DISORD. 7:505-511.
• Muntoni F; Di Lenarda A; Porcu M; Sinagra G; Mateddu A; Marrosu G; Ferlini A; Cau M; et alMilasin J; Melis MA; Marrosu MG; Cianchetti C; Sanna A; Falaschi A; Camerini F; Giacca M; Mestroni L. (Dec 1997). Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart. 78:608-612.
• GnecchiRuscone T; Paternostro G; Taylor J; Muntoni F; Camici PG. (21 Oct 1997). Coronary flow reserve in muscle dystrophies. CIRCULATION. 96:540-540.
• Paternostro G; Pagano D; Bonser RS; Muntoni F; Camici PG. (21 Oct 1997). The GLUT-4 glucose transporter protein is reduced in the failing human heart. CIRCULATION. 96:3510-3510.
• Campbell L; Potter A; Ignatius J; Muntoni F; Dubowitz V; Davies KE. (Oct 1997). Genotype/phenotype correlation in childhood autosomal recessive spinal muscular atrophy (SMA) by pulsed field gel analysis. AM J HUM GENET. 61:A330-A330.
• Brockington M; Sewry C; Philpot J; Topaloglu H; Manheim I; Bushby K; Dubowitz V; Muntoni F. (Oct 1997). Search for the defective gene(s) responsible for merosin-positive Congenital Muscular Dystrophy. AM J HUM GENET. 61:A269-A269.
• Taylor J; Muntoni F; Dubowitz V; Sewry CA. (Oct 1997). The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related. Neuropathol Appl Neurobiol. 23:399-405.
• Ferlini A; Muntoni F. (Oct 1997). The dystrophin gene intron 11 has target sequences for mobile elements and one ORF transcribed in skeletal and heart muscle. AM J HUM GENET. 61:A170-A170.
• Nigro G; Muntoni F. (Sep 1997). 42nd ENMC Sponsored International Workshop: X-Linked Cardiomyopathies - 21-23 June 1996, Naarden, The Netherlands. NEUROMUSCULAR DISORD. 7:397-403.
• Bushby K; Anderson LVB; Sewry C; Pogue R; Taylor J; Pollitt C; Muntoni F. (Sep 1997). Dystrophinopathy or sarcoglycanopathy - the importance of a full diagnostic assessment in suspected manifesting carriers of Duchenne and Becker muscular dystrophy. J MED GENET. 34:522-522.
• Naom I; Sewry C; D'Alessandro M; Topaloglu H; Ferlini A; Wilson L; Dubowitz V; Muntoni F. (May 1997). Prenatal diagnosis in merosin-deficient congenital muscular dystrophy. Neuromuscul Disord. 7:176-179.
• Sewry CA; Naom I; D'Alessandro M; Sorokin L; Bruno S; Wilson LA; Dubowitz V; Muntoni F. (May 1997). Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain. Neuromuscul Disord. 7:169-175.
• Naom I; D'Alessandro M; Sewry C; Ferlini A; Topaloglu H; Helbling-Leclerc A; Guicheney P; Schwartz K; et alAkcoren Z; Dubowitz V; Muntoni F. (Apr 1997). The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy. Hum Genet. 99:535-540.
• Tan E; Topaloglu H; Sewry C; Zorlu Y; Naom I; Erdem S; DAlessandro M; Muntoni F; et alDubowitz V. (Mar 1997). Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. NEUROMUSCULAR DISORD. 7:85-89.
• Naom IS; D'Alessandro M; Topaloglu H; Sewry C; Ferlini A; Helbling-Leclerc A; Guicheney P; Weissenbach J; et alSchwartz K; Bushby K; Philpot J; Dubowitz V; Muntoni F. (Feb 1997). Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. J Med Genet. 34:99-104.
• Goodwin F; Muntoni F; Dubowitz V. (1997). Epilepsy in Duchenne and Becker muscular dystrophies. Eur J Paediatr Neurol. 1:115-119.
• Mercuri E; Pennock J; Goodwin F; Sewry C; Cowan F; Dubowitz L; Dubowitz V; Muntoni F. (Dec 1996). Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy. Neuromuscul Disord. 6:425-429.
• Mestroni L; Muntoni F; Milasin J; DiLenarda A; Sinagra G; Rocco C; Vatta M; Matulic M; et alFalaschi A; Camerini F; Giacca M. (15 Oct 1996). Familial dilated cardiomyopathy with subclinical skeletal muscle involvement. CIRCULATION. 94:1582-1582.
• Torelli S; Muntoni F. (Apr 1996). Alternative splicing of dystrophin exon 4 in normal human muscle. Hum Genet. 97:521-523.
• Rodrigues NR; Owen N; Talbot K; Patel S; Muntoni F; Ignatius J; Dubowitz V; Davies KE. (Feb 1996). Gene deletions in spinal muscular atrophy. J MED GENET. 33:93-96.
• WallgrenPettersson C; Avela R; Marchand S; Kolehmainen J; Tahvanainen E; Hansen FJ; Muntoni F; Dubowitz V; et aldeVisser M; vanLangen IM; Laing NG; Faure S; delaChapelle A. (1996). A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. CYTOGENET CELL GENET. 73:13-13.
• Milasin J; Muntoni F; Severini GM; Bartoloni L; Vatta M; Krajinovic M; Mateddu A; Angelini C; et alCamerini F; Falaschi A; Mestroni L; Giacca M; Pinamonti B; Sinagra G; DiLenarda A; Silvestri F; Bussani R; Davanzo M. (Jan 1996). A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. HUM MOL GENET. 5:73-79.
• HelblingLeclerc A; Topaloglu H; Tome FMS; Sewry C; Gyapay G; Noam I; Muntoni F; Dubowitz V; et alBarois A; Estournet B; Urtizberea JA; Weissenbach J; Schwartz K; Fardeau M; Guicheney P. (Dec 1995). Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. CR ACAD SCI III-VIE. 318:1245-1252.
• WALLGRENPETTERSSON C; AVELA K; MARCHAND S; KOLEHMAINEN J; TAHVANAINEN E; HANSEN FJ; MUNTONI F; DUBOWITZ V; et alDEVISSER M; VANLANGEN IM; LAING NG; FAURE S; DELACHAPELLE A. (Nov 1995). A GENE FOR AUTOSOMAL RECESSIVE NEMALINE MYOPATHY ASSIGNED TO CHROMOSOME 2Q BY LINKAGE ANALYSIS. NEUROMUSCULAR DISORD. 5:441-443.
• Shorer Z; Philpot J; Muntoni F; Sewry C; Dubowitz V. (Nov 1995). Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol. 10:472-475.
• MUNTONI F; FERLINI A; TORELLI S; SEWRY C. (Oct 1995). DP71 CARDIAC EXPRESSION IN 2 FAMILIES WITH X-LINKED DILATED CARDIOMYOPATHY AND A DYSTROPHIN GENE MUTATION. AM J HUM GENET. 57:1429-1429.
• WALLGRENPETERSSON C; AVELA K; MARCHAND S; HANSEN FJ; MUNTONI F; DEVISSER M; FAURE S; DELACHAPELLE A. (Oct 1995). GENETIC NONALLELIC HETEROGENITY CONFIRMED IN NEMALINE (ROD) MYOPATHY. AM J HUM GENET. 57:1177-1177.
• THEODOSIOU AM; RODRIGUES NR; TALBOT K; CAMPBELL L; NESBIT MA; OWEN N; AMBROSE H; MUNTONI F; et alPATEL S; IGNATIUS J; DUBOWITZ V; DAVIES KE. (Oct 1995). MOLECULAR ANALYSIS OF CHILDHOOD-ONSET SPINAL MUSCULAR-ATROPHY. AM J HUM GENET. 57:106-106.
• Muntoni F; Wilson L; Marrosu G; Marrosu MG; Cianchetti C; Mestroni L; Ganau A; Dubowitz V; et alSewry C. (Aug 1995). A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest. 96:693-699. DOI.
• Mercuri E; Dubowitz L; Berardinelli A; Pennock J; Jongmans M; Henderson S; Muntoni F; Sewry C; et alPhilpot J; Dubowitz V. (Jun 1995). Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. Neuropediatrics. 26:156-162. DOI.
• VOIT T; SEWRY CA; MEYER K; HERMANN R; STRAUB V; MUNTONI F; KAHN T; UNSOLD R; et alHELLIWELL TR; APPLETON R; LENARD HG. (Jun 1995). PRESERVED MEROSIN M-CHAIN (OR LAMININ-ALPHA(2)) EXPRESSION IN SKELETAL-MUSCLE DISTINGUISHES WALKER-WARBURG SYNDROME FROM FUKUYAMA MUSCULAR-DYSTROPHY AND MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY. NEUROPEDIATRICS. 26:148-155.
• Rapisarda R; Muntoni F; Gobbi P; Dubowitz V. (May 1995). Duchenne muscular dystrophy presenting with failure to thrive. Arch Dis Child. 72:437-438.
• MUNTONI F; SEWRY C; WILSON L; ANGELINI C; TREVISAN CP; BRAMBATI B; DUBOWITZ V. (4 Mar 1995). PRENATAL-DIAGNOSIS IN CONGENITAL MUSCULAR-DYSTROPHY. LANCET. 345:591-591.
• Mercuri E; Muntoni F; Berardinelli A; Pennock J; Sewry C; Philpot J; Dubowitz V. (Feb 1995). Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics. 26:3-7. DOI.
• Philpot J; Muntoni F; Skellett S; Dubowitz V. (Jan 1995). Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: a possible sequel of drug toxicity in first trimester of pregnancy?. Neuromuscul Disord. 5:67-69.
• Muntoni F; Melis MA; Ganau A; Dubowitz V. (Jan 1995). Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 56:151-157.
• MUNTONI F; GOBBI P; SEWRY C; SHERRATT T; TAYLOR J; SANDHU SK; ABBS S; ROBERTS R; et alHODGSON SV; BOBROW M; DUBOWITZ V. (Nov 1994). DELETIONS IN THE 5' REGION OF DYSTROPHIN AND RESULTING PHENOTYPES. J MED GENET. 31:843-847.
• MUNTONI F; HIRD M; SIMONDS AK. (30 Jul 1994). PREVENTIVE NASAL VENTILATION IN DUCHENNE MUSCULAR-DYSTROPHY. LANCET. 344:340-340.
• MUNTONI F; MATEDDU A; MARCHEI F; CLERK A; SERRA G. (1 Dec 1993). MUSCULAR WEAKNESS IN THE MDX MOUSE. J NEUROL SCI. 120:71-77.
• MUNTONI F. (Oct 1993). THE USE OF MULTIPLE ANTI-DYSTROPHIN ANTIBODIES IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY - REPLY. J NEUROL NEUROSUR PS. 56:1137-1138.
• Clerk A; Muntoni F; Strong PN. (Feb 1993). A dystrophin-immunoreactive protein in mammalian brain. J Neurochem. 60:435-441.
• MUNTONI F; MATEDDU A; CIANCHETTI C; MARROSU MG; CLERK A; CAU M; CONGIU R; CAO A; et alMELIS MA. (Jan 1993). DYSTROPHIN ANALYSIS USING A PANEL OF ANTI-DYSTROPHIN ANTIBODIES IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY. J NEUROL NEUROSUR PS. 56:26-31.
• Rodillo E; Noble-Jamieson CM; Aber V; Heckmatt JZ; Muntoni F; Dubowitz V. (May 1989). Respiratory muscle training in Duchenne muscular dystrophy. Arch Dis Child. 64:736-738.

Chapters in books

• Mercuri E; Muntoni F. Congenital muscular dystrophies. 10-38. (2001).

Conferences

• Kinali M; Arechavala-Gomeza V; Feng L; Cirak S; Hunt D; Adkin C; Guglieri M; Abbs S; et alNihoyannopoulos P; Garralda ME; Rutherford M; McCulley C; Popplewell L; Graham IR; Dickson G; Wood MJA; Wells DJ; Wilton SD; Holt T; Kole R; Straub V; Bushby K; Sewry C; Morgan JE; Muntoni F. Restoration of dystrophin expression in Duchenne muscular dystrophy: A single blind, placebo-controlled dose escalation study using morpholino oligomer AVI-4658. 19:659-659. (Sep 2009). DOI.
• Mercuri E; Clement E; Offiah A; Pichiecchio A; Alsopp J; Vasco G; Bianco F; Manzur A; et alMessina S; Ricci E; Rutherford M; Muntoni F. Specificity and sensitivity of patterns of muscle MRI involvement in muscular dystrophies with rigidity of the spine. 19:627-628. (Sep 2009). DOI.
• Arechavala-Gomeza V; Feng L; Malerba A; Graham IR; Brown SC; Sewry C; Morgan J; Muntoni F. Measuring restored dystrophin in treated muscle: An immunohistological intensity measurement method. 19:615-615. (Sep 2009). DOI.
• Ackroyd MR; Prior S; Whitmore C; Kaluarachchi M; Muntoni F; Brown SC. Deficiency of multiple alpha dystroglycan ligand interactions underlie the phenotype of a FKRP-deficient mouse model for muscle eye brain disease. 19:554-555. (Sep 2009). DOI.
• Kinali M; Arechavala-Omeza V; Feng L; Glover A; Guglieri M; Jungbluth H; Roper H; Quinlivan RM; et alHunt D; Marizur AM; Henderson A; Gosalakkal J; Hollingsworth K; Allsop J; Mercuri E; Morgan J; Sewry C; Straub V; Bushby K; Rutherford M; Muntoni F. Establishing the parameters for clinical trials of antisense oligonucleotide therapy in Duchenne muscular dystrophy. 18:773-773. (Oct 2008). DOI.
• Adkin C; Meng J; Arechevala-Gomeza V; Morgan J; Muntoni F. A model of human muscle regeneration in vivo to test potential therapies for DMD. 18:759-759. (Oct 2008). DOI.
• Steffensen BF; Mayhew A; Aloysius A; Eagle M; Mercuri E; Messina S; Mazzone E; Nadeau A; et alMain M; Scott E; Werlauff U; Werge B; Glanzmann AM; Muntoni F. Egen classification revisited in SMA. 18:740-741. (Oct 2008). DOI.
• Ackroyd MR; Skordis L; Kaluarachchi M; Prior S; Muntoni F; Brown SC. Characterisation of the brain and eye phenotype of a FKRP knock-down mouse model of Muscle-Eye-Brain disease. 18:738-738. (Oct 2008). DOI.
• Brockington M; Torelli S; Cirak S; Brown SC; Wells DJ; Muntoni F. LARGE overexpression in transgenic mice: Implications for therapeutic interventions in muscular dystrophy. 18:737-737. (Oct 2008). DOI.
• Nadeau A; Kinali M; Main M; Jimenez-Mallebrera C; North B; Clement E; Manzur AY; Robb SA; et alMuntoni F. Collagen VI, laminopathies and neuropathies: Poster presentations. 18:730-731. (Oct 2008). DOI.
• Schessl J; Zou Y; McGrath MJ; Cowling BS; Maiti B; Chin SS; Sewry C; Battini R; et alHu Y; Cottle DL; Rosenblatt M; Spruce L; Ganguly A; Kirschner J; Judkins AR; Golden JA; Goebel HH; Taratuto AL; Muntoni F; Flanigan KM; Mitchell CA; Bonnemann CG. Proteomic identification of the LIM domain protein FHL1 as the geneproduct mutated in reducing body myopathy. 18:725-726. (Oct 2008). DOI.
• Prothero J; Lunt P; Muntoni F; Manzur A; O'Shea S; Williams M; Wakeling E. Interpretation of a complex FSHD result in an Asian family in relation to initially apparent compound heterozygosity. British Human Genetics Conference. 44:S68-S68. (Sep 2007).
• Muntoni F. Prospects for the treatment of Duchenne muscular dystrophy. British Human Genetics Conference. 44:S34-S34. (Sep 2007).
• Muntoni F. Are we any further in the treatment of muscular dystrophies?. 12th International Congress of the World-Muscle-Society. 17:898-898. (Oct 2007).
• Clement E; Mercuri E; Rutherford M; Smith J; North K; Kinali M; Straub V; Bushby K; et alCowan F; Godfrey C; Quirdiva R; Topaloglu H; Klein A; Muntoni F. Spectrum of brain changes and genotype-phenotype correlations in secondary dystroglycanopathies. 12th International Congress of the World-Muscle-Society. 17:871-871. (Oct 2007).
• Messina S; Mora M; Pegoraro E; Pini A; Mongini T; D'Amico A; Pane M; Bruno C; et alBiancheri R; Berardinelli A; Toscano A; Morandi L; Moroni I; Farina L; Uggetti C; Pichiecchio; Scuderi C; Ruggieri A; Muntoni F; Santorelli F; Bertini E; Mercuri E. Expanding the clinical spectrum of POMT1 and POMT2 phenotype: A multicentric study in the Italian population. 12th International Congress of the World-Muscle-Society. 17:869-870. (Oct 2007).
• Feng L; Jimenez-Mallebrera C; Quinlivan R; Muntoni F; Sewry C. Non-specific over-expression of utrophin in a variety of neuromuscular disorders including limb girdle muscular dystrophies and congenital myopathies. 12th International Congress of the World-Muscle-Society. 17:842-843. (Oct 2007).
• Arechavala-Gomeza V; Kinali M; Feng L; Edge G; Hunt D; Lehovsky J; Chambers D; Straub V; et alBushby K; Sewry C; Morgan J; Muntoni F. Do revertants increase with age in Duchenne muscular dystrophy boys?. 12th International Congress of the World-Muscle-Society. 17:842-842. (Oct 2007).
• Neri M; Gualandi F; Rimessi P; Bovolenta M; Alfano G; Banfi S; Calzolari E; Muntoni F; et alFerlini A. The topographic distribution of the dystrophin brain isoform in the human cardiac muscle: Implications for the pathogenesis of the x-linked dilated cardiomyopathy. 12th International Congress of the World-Muscle-Society. 17:840-841. (Oct 2007).
• Voit T; Cirak S; Abraham S; Karakesisoglou I; Parano E; Pavone P; Falsaperia R; Amthor H; et alSchroeder J; Muntoni F; Guicheney P; Nurnberg P; Noegel A; Herrmann R. Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy. 12th International Congress of the World-Muscle-Society. 17:833-834. (Oct 2007).
• Jimenez-Mallebrera C; Zhou H; Manzur A; Feng L; Sewry C; Muntoni F. Core myopathy without mutations in RYRI or SEPNI genes. 17:883-883. (Oct 2007). DOI.
• Godfrey C; Clement E; Tan J; Brockington M; Torelli S; Feng L; Brown S; Jimenez-Mallebrera C; et alSewry C; Longman C; Mein R; Abbs S; Vajsar J; Schachter H; Muntoni F. Mild POMGnT1 mutations underlie a novel limb girdle muscular dystrophy variant. 17:870-871. (Oct 2007). DOI.
• Zou Y; Schessl J; Lampe A; Hu Y; Jimenez-Mallebrera C; Schreiber G; Stolte-Dijkstra I; Fock A; et alChu M; Bushby K; Weiss R; Flanigan K; Muntoni F; Bonnemann C. Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich. 17:844-844. (Oct 2007). DOI.
• Neri M; Torelli S; Brown S; Sewry C; Sabatelli P; Merlini L; Spitali P; Gualandi F; et alCalzolari E; Ferlini A; Muntoni F. How much dystrophin to avoid muscular dystrophy?. 17:839-840. (Oct 2007). DOI.
• Kinali M; Robinson R; Sagi L; Nihoyannopoulos P; Manzur A; Muntoni F. The role of ACE inhibitor therapy in presymptomatic cardiomyopathy in Duchenne muscular dystrophy. 17:816-816. (Oct 2007).
• Quijano-Roy S; Mbieleu B; Bonnemann C; Colomer J; Clarke N; Cuisset J; Roper H; De Meirleir L; et alD'Arnico A; Ben Yaou R; Barois A; Demay L; Romero N; Sewry C; Bertini E; Ferreiro A; Muntoni F; Guicheney P; Richard P; Bonne G; Estournet B. LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD). 17:797-798. (Oct 2007). DOI.
• Poulton C; Kinali M; Robb S; Main M; Manzur A; Muntoni F. Long-term steroid use of intermittent low-dosage prednisolone therapy in Duchenne muscular dystrophy with special reference to tolerance and functional outcomes. 17:773-773. (Oct 2007). DOI.
• Popplewell L; Arechavala-Gomeza V; Van Deutekom J; Muntoni F; Dickson G; Graham I. Oligonucleotide-induced exon skipping of the human dystrophin gene. 18:984-984. (Oct 2007).
• Jimenez-Mallebrera C; Kim J; Brown S; Feng L; Muntoni F. Ullrich congenital muscular dystrophy fibroblasts and their adhesion to extracellular matrix proteins. 88:A86-A86. (Dec 2007).
• Fletcher S; Adams AM; Harding PL; McClorey G; Muntoni F; Iversen PL; Wilton SD. A personalised genetic treatment for DMD. 5th Meeting of the Australasian-Gene-Therapy-Society. 9:529-529. (Jun 2007).
• Talbot K; Rodrigues NR; Ignatius J; Muntoni F; Davies KE. Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. 1st International Congress of the World-Muscle-Society. 7:198-201. (May 1997).
• Rimessi P; Gualandi F; Cardazzo B; Calzolari E; Muntoni F; Patarnello T; Ferlini A. Occurrence of two splicing enhancers and a 5 AE cryptic splice site within a LINE1 retrotransposon (L1PMA2): a novel focus on mobile elements functioning?. British Human Genetics Conference 2002. 39:S79-S79. (Sep 2002).
• Brown SC; Torelli S; Jimenez C; Feng L; Sewry CA; Muntoni F. Dystroglycan expression during muscle development. 7th International Congress of the World-Muscle-Society. 12:748-748. (Oct 2002).
• Lampe AK; Leonard N; Johnson M; Brockington M; Muntoni F; Hastings L; Bushby K. Ullrich-like congenital muscular dystrophy without linkage to collagen VI. 7th International Congress of the World-Muscle-Society. 12:745-746. (Oct 2002).
• Romero NB; Quijano-Roy S; Estournet B; Brockington M; Many H; Ferreiro A; Barois A; Sabouraud P; et alMuntoni F; Richard P; Fardeau M; Guicheney P. Deficiency of alpha-dystroglycan in skeletal muscle: clinical and genetic heterogeneity of 12 patients with early onset muscular dystrophy. 7th International Congress of the World-Muscle-Society. 12:744-745. (Oct 2002).
• Quijano-Roy S; Romero NB; Louhichi N; Brockington M; Many H; Yeliz Y; Richard P; Estournet B; et alMuntoni F; Fardeau M; Barois A; Guicheney P. FKRP (FuKutin Related Protein) gene mutations associated with intermediate phenotype between CMD Type 1C and LGMD2I. 7th International Congress of the World-Muscle-Society. 12:743-743. (Oct 2002).
• Kinali M; Banks L; Mercuri E; Manzur AY; Muntoni F. Bone mineral density in paediatric spinal muscular atrophy. 8th International Congress of the World-Muscle-Society. 13:661-661. (Sep 2003).
• Lampe AK; Dunn DM; von Niederhausern AC; Aoyagi A; Hamil C; Duval B; O'Brien K; Laval S; et alChu ML; Swoboda K; Muntoni F; Bonnemann C; Flanigan KM; Bushby K; Weiss RB. Rapid direct sequence analysis of the three genes encoding collagen VI. 8th International Congress of the World-Muscle-Society. 13:655-655. (Sep 2003).
• Treves S; Sewry C; Quinlivan R; Muntoni F; Muller CR; Girard T; Ducreux S; Zorzato F. Mutations in the skeletal muscle calcium channel (ryanodine receptor) linked to central core disease. Impact on the functional properties of the endogenous calcium release channel in cultured human muscle cells. 8th International Congress of the World-Muscle-Society. 13:627-628. (Sep 2003).
• Kinali M; Messina S; Mercuri E; Stephens DA; Jaywant S; Manzur AY; Banks L; Muntoni F. Bone mineral density measurement in children with Duchenne muscular dystrophy: effect of low dose intermittent prednisolone. 8th International Congress of the World-Muscle-Society. 13:626-627. (Sep 2003).
• Rimessi P; Gualandi F; Patarnello T; Muntoni F; Calzolari E; D'Agostaro G; Ferlini A. Characterisation of two novel splicing enhancer sequences in the dystrophin gene, located within a LINE1 element and involved in XLDC. Annual Meeting of the American-Society-of-Human-Genetics. 73:585-585. (Nov 2003).
• Giatrakos N; Kinali M; Koutroulis G; Muntoni F; Nihoyannopoulos P. Impaired strain rate measurements in patients with Duchenne muscular dystrophy. 76th Annual Scientific Session of the American-Heart-Association. 108:690-690. (28 Oct 2003).
• Giatrakos ND; Kinali M; Muntoni F; Nihoyannopoulos P. Strain rate and strain rate-derived time to onset of relaxation can be used for the early detection of impaired myocardial function in asymptomatic boys with Duchenne muscular dystrophy. 54th Annual Scientific Session of the American-College-of-Cardiology. 43:160A-161A. (3 Mar 2004).
• Messina S; Hurtley L; Kinali M; Main M; Jungbluth H; Muntoni F; Mercuri E. Pilot study of salbutamol in congenital myopathies. 14th Meeting of the European-Neurological-Society. 251:77-78. (Jun 2004).
• Jimenez-Mallebrera C; Maioli M; Feng L; Brown SC; Lampe AK; Bushby K; Flanigan K; Weiss B; et alBonnemann C; Mercuri E; Torelli S; Sewry CA; Muntoni F. Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations. 9th International Congress of the World-Muscle-Society. 14:614-615. (Sep 2004).
• Quinlivan R; Roper H; Manzur A; Eagle M; Hill M; Davie M; Mughal Z; Shaw N; et alMcDonagh J; Muntoni F; Bushby K. Report of a Muscular Dystrophy Campaign funded workshop to review the prevalence of osteoporosis in DMD and its treatment and prevention. 9th International Congress of the World-Muscle-Society. 14:582-582. (Sep 2004).
• Torelli S; Brown SC; Dolatshad N; Jimenez-Mallebrera C; Skordis L; Brockington M; Feng L; Romero N; et alJones DH; Merlini L; Sewry C; Noguchi S; Nishino I; Muntoni F. Developmental expression and sub-cellular localisation of fakutin related protein in cultured cell lines and the muscle of patients with MDC1C and LGMD2I. 9th International Congress of the World-Muscle-Society. 14:580-580. (Sep 2004).
• Kutzick C; Herrmann R; Straub V; Steinbrecher A; Cirak S; Korenke C; Guicheney P; Schara U; et alWrogemann K; Muntoni F; Faurholt-Pedersen V; Wewer U; Voit T. Muscle-eye-brain disease due to homozygous founder mutation in FKRP in Northern Germany and Denmark. 9th International Congress of the World-Muscle-Society. 14:578-579. (Sep 2004).
• Lampe AK; Muntoni F; Bonnemann C; Flanigan KM; Swoboda K; Jimenez-Mallebrera C; Laval S; Weiss RB; et alBushby K. Bethlem and Ullrich patients with splice site mutations in COL6A1, 2 and 3. 9th International Congress of the World-Muscle-Society. 14:564-564. (Sep 2004).
• Giatrakos N; Stephens D; Kinali M; Muntoni F; Nihoyannopoulos P. Strain rate can be used for the prediction of the development of a more aggressive cardiomyopathy in asymptomatic patients with Duchenne muscular dystrophy. A three year follow-up study. ESC Congress 2004. 25:504-504. (Aug 2004).
• Piercy RJ; Zhou H; Torelli S; Ellis J; Muntoni F; Brown SC. Desmin localisation in autosomal dominant Emery Dreifuss muscular dystrophy. 10th International Congress of the World-Muscle-Society. 15:730-730. (Oct 2005).
• Jimenez-Mallebrera C; Brown SC; Maioli M; Kim J; Lampe AK; Bushby K; Flanigan KM; Sewry CA; et alMuntoni F. Production, secretion and immunolabelling of collagen VI in patients with recessive and dominant mutations in COL6 genes. 10th International Congress of the World-Muscle-Society. 15:706-706. (Oct 2005).
• Knight RK; Muntoni F; Lampe A; Bushby K; Mercuri E; Manzur A. Cutaneous abnormality as a diagnostic tool in the diagnosis of collagen VI deficient congenital muscular dystrophy. 10th International Congress of the World-Muscle-Society. 15:706-706. (Oct 2005).
• van Reeuwijk J; Janssen M; van den Elzen C; de Bernabe DBV; Sabatelli P; Merlini L; Boon M; Scheffer H; et alBrockington M; Muntoni F; Huynen MA; Walsh CA; Barth PG; Brunner HG; van Bokhoven H. POMT2 mutations give rise to Walker Warburg syndrome. 10th International Congress of the World-Muscle-Society. 15:705-705. (Oct 2005).
• Vainzof M; Richard P; Herrmann R; Jimenez-Mallebrera C; Talim B; Yamamoto LU; Ledeuil C; Mein R; et alAbbs S; Brockington M; Romero N; Zatz M; Topaloglu H; Voit T; Sewry C; Muntoni F; Guicheney P; Tome FMS. Prenatal diagnosis in laminin alpha-2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of 5 international centers. 10th International Congress of the World-Muscle-Society. 15:704-704. (Oct 2005).
• Ip P; Knight R; Dokal I; Manzur AY; Muntoni F. Peripheral neuropathy: a novel finding in dyskeratosis congenital. 10th International Congress of the World-Muscle-Society. 15:684-685. (Oct 2005).
• Jungbluth H; Zhou H; Sewry CA; Mills KR; Rose MR; Muntoni F. Multi-minicore disease with external ophthalmoplegia and periodic paralysis associated with a mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 10th International Congress of the World-Muscle-Society. 15:681-681. (Oct 2005).
• Zhou H; Treves S; Jungbluth H; Sewry C; Muntoni F. RYR1 gene genotype-phenotype and functional correlative studies in central core disease and multi-minicore disease. 10th International Congress of the World-Muscle-Society. 15:680-681. (Oct 2005).
• Muntoni F. Cardiac involvement in limb girdle muscular dystrophies. 11th International Congress on Neuromuscular Diseases. 16:S196-S196. (Jul 2006).
• Muntoni F. Therapeutic highlights in muscular dystrophies. 11th International Congress on Neuromuscular Diseases. 16:S189-S189. (Jul 2006).
• Brockington M; Torelli S; Kaluarachchi M; Brown SC; Muntoni F. The transient expression of Protein-O-Mannosyl Transferase 1 (POMT1) mutants retain their endoplasmic reticulum localisation. 11th International Congress on Neuromuscular Diseases. 16:S56-S56. (Jul 2006).
• Nicholson C; Main M; Mercuri E; Muntoni F. Is there a relationship between hamstring length and function in ambulant boys with Duchenne muscular dystrophy?. 11th International Congress of the World-Muscle-Society. 16:719-719. (Oct 2006).
• Zhou H; Jungbluth H; Treves S; Bertini E; Straub V; Bushby K; Sewry C; Muntoni F. RYR1 genotype-phenotype correlative and functional studies in a large cohort of core myopathy patients with RYR1 mutations. 11th International Congress of the World-Muscle-Society. 16:687-687. (Oct 2006).
• Godfrey C; Mein R; Brockington M; Elson E; Topaloglu H; Smith J; Escolar D; Bertini E; et alMerlini I; Mercuri E; Bushby K; Straub V; North K; Abbs S; Muntoni F. Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations. 11th International Congress of the World-Muscle-Society. 16:683-683. (Oct 2006).
• Godfrey C; Mein R; Jimenez-Mallebrera C; Feng L; Brockington M; Muntoni F; Abbs S. Mutation detection in a large cohort of muscular dystrophy patients widens the clinical spectrum associated with dystroglycanopathy genes. British Human Genetics Conference. 43:S84-S84. (Sep 2006).
• Treves S; Jungbluth H; Zhou H; Yamaguchi N; Meissner G; Sewry'Md C; Zorzato F; Muntoni F. RYR1 mutations and multi-minicore disease. 24A-24A. (Jan 2007).
• Facer P; Atherton D; Roberts K; Misra VP; Kinali M; Manzur AY; Muntoni F; Anand P. A new syndrome of congenital insensitivity to pain diagnosed by skin biopsy and contact heat evoked potentials (CHEPS). 77:1400-1400. (Dec 2006).
• Kinali M; Knight RK; Main M; Mercuri E; Messina S; Manzur AY; Muntoni F. Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. 16:719-719. (Oct 2006). DOI.
• Arechavala V; Bushby K; Dickson G; Graham I; Kinali M; Liu K; Morgan J; Muntoni F; et alPopplewell L; Partridge T; Thorogood F; Wells K; Wells N; Wood M; Yin H. A phase I/II clinical trial in Duchenne muscular dystrophy using IM and IV delivered antisense oligonucleotides: The MDEX consortium. 16:685-685. (Oct 2006). DOI.
• Senderek J; Krieger M; Stendel C; North K; Muntoni F; Quijano-Roy S; Ebinger F; Schroder JM; et alVoit T; Weis J; Topaloglu H; Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. 16:683-683. (Oct 2006). DOI.
• Kaluarachchi M; Skordis L; Brockington M; Muntoni F; Brown SC. The use of FRET analysis to look at the interaction of glycosyltransferases responsible for dystroglycanopathies. 16:679-679. (Oct 2006). DOI.
• Main M; Kinali M; Muntoni F. Limitation of neck movement may be a feature of most of the childhood neuromuscular disorders. 16:664-664. (Oct 2006). DOI.
• Godfrey C; Mein R; Brockington M; Brown S; Escolar D; Abbs S; Muntoni F. The identification of compound heterozygous mutations in the Fukutin gene in two non Japanese patients with Limb girdle muscular dystrphy. 16:S110-S110. (Jul 2006).
• Brown S; Brockington M; Kaluarachchi M; Manley J; Torelli S; Wells D; Muntoni F. Evaluation of the effect of a transient up-regulation of LARGE in the mouse m.tibialis anterior. 16:S74-S74. (Jul 2006).
• Gualandi F; Trabanelli C; Rimessi P; Calzolari E; Muntoni F; Ferlini A. The phenotype associated with dystrophin exon 5 in-frame deletions relies on a splicing abnormality causing exon 6 skipping. 39:S78-S78. (Sep 2002).
• Bastianutto CB; Patarnello T; De Visser M; Muntoni F; Klamut HJ. Identification of a new muscle specific enhancer in the human dystrophin gene, located within the deletion overlap of two XLDC patients. 12:755-755. (Oct 2002).
• Longman CA; Brockington M; Kennedy C; Jimenez C; Torelli S; Sewry C; Brown S; Muntoni F. Mutations in the human LARGE gene cause a form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan (MDC1D). 73:570-570. (Nov 2003).
• Lampe AK; Dunn DM; von Niederhausern AC; Aoyagi A; Hamil C; Duval B; O'Brien K; Laval S; et alChu ML; Swoboda K; Muntoni F; Bonnemann C; Flanigan KM; Bushby K; Weiss RB. Rapid direct sequence analysis of the three genes encoding collagen VI. 40:S65-S65. (Sep 2003).
• Kinali M; Mercuri E; Gibson BE; Hartley L; Manzur AY; Simonds AK; Muntoni F. UK physicians' attitudes and practises in long term non-invasive ventilation of children with Duchenne Muscular Dystrophy. 58:79-79. (Dec 2003).
• Muntoni F. Duchenne Muscular dystrophy: from pathogenesis to therapeutic trials. 14:612-612. (Sep 2004).
• Hackman P; Juvonen V; Vihola A; Sarparanta J; Auranen M; Suominen T; Brockington M; Muntoni F; et alSaenz A; Kalimo H; Marchand S; Richard I; Udd B. Molecular genetics of recessive limb girdle muscular dystrophies in Finland. 14:607-607. (Sep 2004).
• Treves S; Ducreux S; Sewry C; Muntoni F; Quinlivan R; Muller C; Restagno G; Zorzato F. Effect of ryanodine receptor mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia susceptible individuals and patients affected by central core disease. 14:600-600. (Sep 2004).
• Kaluarachchi M; Jimenez-Mallebrera C; Torelli S; Brockington M; Muntoni F; Brown SC. In situ hybridization of FKRP mRNA during mouse development. 14:580-580. (Sep 2004).
• Dolatshad N; Skordis LA; Torelli S; Brockington M; Muntoni F; Brown SC. Cellular localisation of wild type and mutated FKRP. 14:579-580. (Sep 2004).
• Brockington M; Torelli S; Boito C; Longman C; Brown SC; Muntoni F. Transient expression of wild type but not mutant LARGE localises at the Golgi apparatus and causes increased alpha-dystroglycan biosynthesis. 14:564-564. (Sep 2004).
• Giatrakos N; Kinali M; Muntoni F; Nihoyannopoulos P. Impaired endothelium independent vasodilatation of the brachial artery in patients with limb-girdle muscular dystrophy indicates smooth muscle cell dysfunction. 45:387A-387A. (1 Feb 2005).
• Giatrakos N; Stephens D; Kinali M; Muntoni F; Nihoyannopoulos P. Strain rate can accurately predict a more aggressive cardiac involvement in asymptomatic patients with duchenne muscular dystrophy. 110:550-550. (26 Oct 2004).
• Sewry CA; Jimenez-Mallbrera C; Feng L; Quinlivan R; Muntoni F. Over-expression of sarcolemmal utrophin in patients with limb-girdle muscular dystrophies. 15:717-717. (Oct 2005).
• Mercuri E; Topaloglu H; Brockington M; Berardinelli A; Pichiecchio A; Santorelli FM; Ricci E; Rutherford M; et alVoit T; Muntoni F. The spectrum of brain malformations in patients with FKRP gene mutations. 15:715-716. (Oct 2005).
• Longman C; Sellick G; Mahjneh I; Brockington M; Sagi L; Anderson L; Topaloglu H; Bushby K; et alHoulston R; Muntoni F. A novel locus for congenital muscular dystrophy maps to chromosome 4p16.3. 15:705-705. (Oct 2005).
• Jungbluth H; Zhou H; Bertini E; Treves S; Sewry C; Muntoni F. Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy. 15:681-681. (Oct 2005).
• Dlamini N; Messina S; Padua DL; Main M; Knight R; Manzur A; Mercuri E; Muntoni F; et alKinali M. Quality of life outcomes following rehabilitation in knee-ankle-foot orthoses (KAFOs) in Duchenne muscular dystrophy. 15:701-702. (Oct 2005).
• Main M; Haliloglu G; Kinali M; Mercuri E; Muntoni F; Baker R. Rehabilitation of walking in KAFO's in Duchenne muscular dystrophy: can surgical release of the TA be avoided?. 15:702-702. (Oct 2005).
• Messina S; Hartley L; Main M; Kinali M; Jungbluth H; Muntoni F; Mercuri E. Pilot trial of Salbutamol in congenital myopathies. 14:597-598. (Sep 2004).
• Jimenez-Mallebrera C; Feng L; Brown SC; Barber R; Abbs S; Sewry CA; Muntoni F. Primary or secondary laminin-alpha 2 deficiency?. 14:580-581. (Sep 2004).
• Treves S; Ducreux S; Sewry C; Muntoni F; Muller C; Zorzato F. Ryanodine receptor mutations linked to MH and CCD: effect of mutations on intracellular calcium homeostasis of cultured primary human skeletal muscle cells. 86:220A-220A. (Jan 2004).
• Desforges L; Stefanidis A; Koutroulis G; Kinali M; Muntoni F; Nihoyannopoulos P. Role of two dimensional and Doppler echocardiography in patients with Duchenne cardiomyopathy. 89:40-41. (Nov 2003).
• Giatrakos N; Kinali M; Koutroulis G; Mercuri E; Desforges L; Dawson D; Stefanidis A; Nihoyannopoulos P; et alMuntoni F. Characterization of the early cardiac phenotype in Duchenne muscular dystrophy using tissue doppler imaging derived myocardial performance index. 13:624-624. (Sep 2003).
• Jimenez-Mallebrera C; Feng L; Brown SC; Muntoni F; Sewry CA. Do alterations in laminin beta 2 localisation indicate a role of laminin-4 in congenital muscular dystrophy?. 13:656-656. (Sep 2003).
• Piercy RJ; Pombo A; Stewart CL; Muntoni F; Brown SC. Does an association of nuclear replication and transcription sites with the nuclear matrix underlie the pathogenesis of the laminopathies?. 13:658-658. (Sep 2003).
• Torelli S; Kunz G; Berardinelli A; Merlini L; Blake DJ; Brown SC; Muntoni F. Expression and developmental regulation of dystrobrevin isoforms in fetal muscle and Duchenne and Becker muscular dystrophies. 13:624-624. (Sep 2003).
• Longman C; De Bernabe DBV; Brockington M; Muntoni F; Brunner HG; van Bokhoven H. FKRP mutation in a patient with Walker-Warburg syndrome. 13:638-638. (Sep 2003).
• Majumdar A; Kinali M; Mercuri E; Main M; Muntoni F. Fracture prevalence in spinal muscular atrophy. 13:660-661. (Sep 2003).
• Brown SC; Torelli S; Feng L; Cole GJ; Sewry CA; Muntoni F. Immunocytochemical analysis of muscle agrin in MDC1C and LGDM2I. 13:649-649. (Sep 2003).
• Giatrakos N; Kinali M; Nihoyannopoulos P; Muntoni F. Impaired endothelium independent vasodilatation in patients with sarcoglycan-deficient limb-girdle muscular dystrophy. 13:647-647. (Sep 2003).
• Longman C; Jimenez C; Brockington M; Torelli S; Sewry C; Brown S; Feng L; Muntoni F. Novel forms of muscular dystrophy with alpha-dystroglycan deficiency and absent CNS involvement. 13:645-645. (Sep 2003).
• Dincer P; Balci B; Yuva Y; Talim B; Brockington M; Dincel D; Gerceker FO; Haliloglu G; et alAtalay RC; Yakicier C; Muntoni F; Topaloglu H. Autosomal recessive limb-girdle muscular dystrophy with severe mental retardation: a new phenotype with glycosylation defects of alpha-dystroglycan. 12:721-721. (Oct 2002).
• Bonne G; Ben Yaou R; Demay L; Richard P; Eymard B; Urtizberea JA; Duboc D; Muntoni F; et alWehnert M; Toniolo D; Merlini L; van der Kooi A; de Visser M; Recan D; Schwartz K; Bonne G. Clinical analysis of 32 patients carrying R453W LMNA mutation. 12:721-721. (Oct 2002).
• Muntoni F; Brockington M; Blake DJ; Torelli S; Sewry CA; Brown SC. Disorders of glycosylation: an emerging group of muscular dystrophies. 12:718-718. (Oct 2002).
• Ferreiro A; Quijano-Roy S; Pichereau C; Moghadaszadeh B; Goemans NMLA; Bonnemann C; Jungbluth H; Straub V; et alVillanova M; Leroy JP; Romero NB; Martin JJ; Richard P; Muntoni F; Voit T; Estournet B; Fardeau M; Guicheney P. SEPN1 mutations cause classical multi-minicore disease: reappraising the nosology of early-onset myopathies. 12:720-720. (Oct 2002).
• Jimenez-Mallebrera C; Torelli S; Brown SC; Brockington M; Yuva Y; Sewry CA; Muntoni F. Severe depletion of alpha-dystroglycan in Walker-Warburg syndrome. 12:744-744. (Oct 2002).
• Lampe AK; Brockington M; Johnson M; Leonard N; Hastings L; Muntoni F; Bushby K. A family with Ullrich-like congenital muscular dystrophy unlinked to the collagen 6A genes. 39:S35-S35. (Sep 2002).
• Mercuri E; Counsell S; Allsopp J; Cini C; Zolkipli Z; Kinali M; Jungbluth H; Muntoni F. Muscle MRI in patients with muscular disorders with ridid spine. 199:S49-S49. (15 Jul 2002).
• Petit N; Moghadaszadeh B; Hu C; Lescure A; Quijano S; Estournet B; Merlini L; Muntoni F; et alTopaloglu H; Krol A; Wewer U; Guicheney P. Mutations in the Selenoprotein N gene (SEPN1) cause congenital muscular dystrophy with early rigidity of the spine and restrictive respiratory syndrome. 10:260-260. (May 2002).