Research and publications from the Dubowitz Neuromuscular Centre

There are a number of ongoing clinical research and audit projects within the Dubowitz Neuromuscular Centre (DNC) service.


The research part of the Dubowitz Neuromuscular Centre (DNC) is carried out at a centre directed by Professor Francesco Muntoni.


Reference 1

Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet 48 (10): 660-8

Reference 2

Klein A, Jungbluth H, Clement E, Lillis S, Abbs S, Munot P, Pane M, Wraige E, Schara U, Straub V, Mercuri E, Muntoni F (2011) Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol 68 (9): 1171-9

Reference 3

Ackroyd MR, Whitmore C, Prior S, Kaluarachchi M, Nikolic M, Mayer U, Muntoni F, Brown SC (2011) Fukutin-related protein alters the deposition of laminin in the eye and brain. J Neurosci 31 (36): 12927-35

Reference 4

Muntoni F, Torelli S, Wells DJ, Brown SC (2011) Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 24 (5): 437-42

Reference 5

Muntoni F, Wood MJ (2011) Targeting RNA to treat neuromuscular disease. Nat Rev Drug Discov 10 (8): 621-37

Reference 6

Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F (2011) 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 378 (9791): 595-605

Reference 7

Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F (2011) SEPN1-related myopathies: clinical course in a large cohort of patients. Neurology 76 (24): 2073-8

Reference 8

Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F (2011) Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord 21 (6): 379-86

Reference 9

Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H (2011) King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 21 (6): 420-7

Reference 10

Owen N, Zhou H, Malygin AA, Sangha J, Smith LD, Muntoni F, Eperon IC (2011) Design principles for bifunctional targeted oligonucleotide enhancers of splicing. Nucleic Acids Res 39 (16): 7194-208

Reference 11

Bönnemann CG, Rutkowski A, Mercuri E, Muntoni F, CMD Outcomes Consortium (2011) 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Disord 21 (7): 513-22

Reference 12

Mazzone E, Bianco F, Martinelli D, Glanzman AM, Messina S, De Sanctis R, Main M, Eagle M, Florence J, Krosschell K, Vasco G, Pelliccioni M, Lombardo M, Pane M, Finkel R, Muntoni F, Bertini E, Mercuri E (2011) Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord 21 (6): 406-12

Reference 13

Godfrey C, Foley AR, Clement E, Muntoni F (2011) Dystroglycanopathies: coming into focus. Curr Opin Genet Dev 21 (3): 278-85

Reference 14

Mayhew A, Cano S, Scott E, Eagle M, Bushby K, Muntoni F, North Star Clinical Network for Paediatric Neuromuscular Disease (2011) Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 53 (6): 535-42

Reference 15

Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP (2011) A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 364 (10): 939-46

Reference 16

Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F (2011) The multiple phenotypes of Arthrogryposis multiplex congenita with reference to the neurogenic variant. Eur J Paediatr Neurol 15 (4): 316-9

Reference 17

Lin YY, White RJ, Torelli S, Cirak S, Muntoni F, Stemple DL (2011) Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Hum Mol Genet 20 (9): 1763-75

Reference 18

Matthews E, Manzur AY, Sud R, Muntoni F, Hanna MG (2011) Stridor as a neonatal presentation of skeletal muscle sodium channelopathy. Arch Neurol 68 (1): 127-9

Reference 19

Ricotti V, Roberts RG, Muntoni F (2011) Dystrophin and the brain. Dev Med Child Neurol 53 (1): 12

Reference 20

Malerba A, Sharp PS, Graham IR, Arechavala-Gomeza V, Foster K, Muntoni F, Wells DJ, Dickson G (2011) Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. Mol Ther 19 (2): 345-54

Reference 21

Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet 20 (3): 589-600

Reference 22

Meng J, Muntoni F, Morgan JE (2011) Stem cells to treat muscular dystrophies - where are we?. Neuromuscul Disord 21 (1): 4-12

Reference 23

Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ (2011) Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord 21 (1): 20-30

Reference 24

Morgan J, Rouche A, Bausero P, Houssaïni A, Gross J, Fiszman MY, Alameddine HS (2010) MMP-9 overexpression improves myogenic cell migration and engraftment. Muscle Nerve 42 (4): 584-95

Reference 25

Brockington M, Torelli S, Sharp PS, Liu K, Cirak S, Brown SC, Wells DJ, Muntoni F (2010) Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. PLoS One 5 (12): e14434

Reference 26

Reference 27

Ono Y, Boldrin L, Knopp P, Morgan JE, Zammit PS (2010) Muscle satellite cells are a functionally heterogeneous population in both somite-derived and branchiomeric muscles. Dev Biol 337 (1): 29-41

Reference 28

Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R (2010) Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 25 (12): 1559-81

Reference 29

Reference 30

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K (2010) Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest 120 (12): 4220-35

Reference 31

Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry CA, Morgan JE, Muntoni F (2010) Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord 20 (5): 295-301

Reference 32

Jephson CG, Mills NA, Pitt MC, Beeson D, Aloysius A, Muntoni F, Robb SA, Bailey CM (2010) Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. Int J Pediatr Otorhinolaryngol 74 (9): 991-4

Reference 33

Read J, Simonds A, Kinali M, Muntoni F, Garralda ME (2010) Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers. Neuromuscul Disord 20 (7): 458-63

Reference 34

Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, Kornberg AJ, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King MD, Farrell MA, Marty I, Lunardi J, Monnier N, North KN (2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 31 (7): E1544-50

Reference 35

Boldrin L, Muntoni F, Morgan JE (2010) Are human and mouse satellite cells really the same?. J Histochem Cytochem 58 (11): 941-55

Reference 36

Read J, Kinali M, Muntoni F, Weaver T, Garralda ME (2011) Siblings of young people with Duchenne muscular dystrophy--a qualitative study of impact and coping. Eur J Paediatr Neurol 15 (1): 21-8

Reference 37

Forrest S, Meloni PL, Muntoni F, Kim J, Fletcher S, Wilton SD (2010) Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations. Neuromuscul Disord 20 (12): 810-6

Reference 38

Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68 (5): 717-26

Reference 39

Reference 40

Reilly MM, Shy ME, Muntoni F, Pareyson D (2010) 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord 20 (12): 839-46

Reference 41

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F (2010) Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. Neuromuscul Disord 20 (12): 796-800

Reference 42

Lu QL, Yokota T, Takeda S, Garcia L, Muntoni F, Partridge T (2011) The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. Mol Ther 19 (1): 9-15

Reference 43

Zhou H, Lillis S, Loy RE, Ghassemi F, Rose MR, Norwood F, Mills K, Al-Sarraj S, Lane RJ, Feng L, Matthews E, Sewry CA, Abbs S, Buk S, Hanna M, Treves S, Dirksen RT, Meissner G, Muntoni F, Jungbluth H (2010) Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 20 (3): 166-73

Reference 44

Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa C, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F (2010) Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 20 (4): 241-50

Reference 45

Popplewell LJ, Adkin C, Arechavala-Gomeza V, Aartsma-Rus A, de Winter CL, Wilton SD, Morgan JE, Muntoni F, Graham IR, Dickson G (2010) Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials. Neuromuscul Disord 20 (2): 102-10

Reference 46

Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, Nagel N, Holder A, Stanley R, Chandler K, Marks SL, Muntoni F, Shelton GD, Piercy RJ (2010) A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5 (1): e8647

Reference 47

Meng J, Adkin CF, Arechavala-Gomeza V, Boldrin L, Muntoni F, Morgan JE (2010) The contribution of human synovial stem cells to skeletal muscle regeneration. Neuromuscul Disord 20 (1): 6-15

Reference 48

Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F (2010) Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol 36 (4): 265-74

Reference 49

Jungbluth H, Cullup T, Lillis S, Zhou H, Abbs S, Sewry C, Muntoni F (2010) Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. Neuromuscul Disord 20 (1): 49-52

Reference 50

Manzur AY, Muntoni F (2009) Diagnosis and new treatments in muscular dystrophies. J Neurol Neurosurg Psychiatry 80 (7): 706-14

Reference 51

Read J, Kinali M, Muntoni F, Garralda ME (2010) Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy. Eur J Paediatr Neurol 14 (4): 340-8

Reference 52

Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F (2010) Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 67 (2): 201-8

Reference 53

Astrea G, Schessl J, Clement E, Tosetti M, Mercuri E, Rutherford M, Cioni G, Bönnemann CG, Muntoni F, Battini R (2009) Muscle MRI in FHL1-linked reducing body myopathy. Neuromuscul Disord 19 (10): 689-91

Reference 54

Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F (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 (10): 918-28

Reference 55

Reference 56

Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F (2009) Natural history of Ullrich congenital muscular dystrophy. Neurology 73 (1): 25-31

Reference 57

Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A (2009) Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. Ann Neurol 65 (6): 677-86

Reference 58

Manzur AY, Muntoni F (2009) Diagnosis and new treatments in muscular dystrophies. J Neurol Neurosurg Psychiatry 80 (7): 706-14

Reference 59

Mercuri E, Manzur A, Main M, Alsopp J, Muntoni F (2009) Is there post-natal muscle growth in amyoplasia? A sequential MRI study. Neuromuscul Disord 19 (6): 444-5

Reference 60

Manzur AY, Muntoni F (2009) Diagnosis and new treatments in muscular dystrophies. Postgrad Med J 85 (1009): 622-30

Reference 61

Jungbluth H, Lillis S, Zhou H, Abbs S, Sewry C, Swash M, Muntoni F (2009) Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 19 (5): 344-7

Reference 62

Hicks D, Lampe A, Laval S, Allamand V, Jimenez-Mallebrera C, Walter M, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby K (2009) Response to letter from Bernardi. Brain 00: 00

Reference 63

Mitrpant C, Adams AM, Meloni PL, Muntoni F, Fletcher S, Wilton SD (2009) Rational design of antisense oligomers to induce dystrophin exon skipping. Mol Ther 17 (8): 1418-26

Reference 64

Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG (2009) Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 132 (Pt 2): 452-64

Reference 65

Ackroyd MR, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy RJ, Muntoni F, Brown SC (2009) Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain 132 (Pt 2): 439-51

Reference 66

Reference 67

Isman O, Roberts ML, Morgan JE, Graham IR, Goldring K, Lawrence-Watt DJ, Lu QL, Dunckley MG, Porter AC, Partridge TA, Dickson G (2008) Adenovirus-based targeting in myoblasts is hampered by nonhomologous vector integration. Hum Gene Ther 19 (10): 1000-8

Reference 68

Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur 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 (2008) Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 64 (5): 573-82

Reference 69

Ghassemi F, Vukcevic M, Xu L, Zhou H, Meissner G, Muntoni F, Jungbluth H, Zorzato F, Treves S (2009) A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium 45 (2): 192-7

Reference 70

Collins CA, Gnocchi VF, White RB, Boldrin L, Perez-Ruiz A, Relaix F, Morgan JE, Zammit PS (2009) Integrated functions of Pax3 and Pax7 in the regulation of proliferation, cell size and myogenic differentiation. PLoS One 4 (2): e4475

Reference 71

Hicks D, Lampe AK, Laval SH, Allamand V, Jimenez-Mallebrera C, Walter MC, Muntoni F, Quijano-Roy S, Richard P, Straub V, Lochmüller H, Bushby KM (2009) Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 132 (Pt 1): 147-55

Reference 72

Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG (2009) Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 65 (1): 83-9

Reference 73

Brown SC, Piercy RJ, Muntoni F, Sewry CA (2008) Investigating the pathology of Emery-Dreifuss muscular dystrophy. Biochem Soc Trans 36 (Pt 6): 1335-8

Reference 74

Fernandez-Fuente M, Ames EG, Wagner ML, Zhou H, Strom M, Zammit PS, Mickelson JR, Muntoni F, Brown SC, Piercy RJ (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 (12): 1637-45

Reference 75

Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A (2008) A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics 9 (): 572

Reference 76

Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S, Brown SC, Campbell KP, Kröger S, Talim B, Topaloglu H, Quinlivan R, Roper H, Childs AM, Kinali M, Sewry CA, Muntoni F (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 (4): 596-611

Reference 77

Nadeau A, Muntoni F (2008) Skin changes in Ullrich congenital muscular dystrophy. Neuromuscul Disord 18 (12): 982

Reference 78

Muntoni F, Torelli S, Brockington M (2008) Muscular dystrophies due to glycosylation defects. Neurotherapeutics 5 (4): 627-32

Reference 79

Jungbluth H, Muntoni F, Ferreiro A, Core Myopathy Consortium (2008) 150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands. Neuromuscul Disord 18 (12): 989-96

Reference 80

Sewry CA, Jimenez-Mallebrera C, Muntoni F (2008) Congenital myopathies. Curr Opin Neurol 21 (5): 569-75

Reference 81

Reference 82

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 40 (9): 1113-8

Reference 83

Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA (2008) Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 201-202 (): 6-12

Reference 84

Otto A, Schmidt C, Luke G, Allen S, Valasek P, Muntoni F, Lawrence-Watt D, Patel K (2008) Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J Cell Sci 121 (Pt 17): 2939-50

Reference 85

Manzur AY, Kinali M, Muntoni F (2008) Update on the management of Duchenne muscular dystrophy. Arch Dis Child 93 (11): 986-90

Reference 86

Klein A, Clement E, Mercuri E, Muntoni F (2008) Differential diagnosis of congenital muscular dystrophies. Eur J Paediatr Neurol 12 (5): 371-7

Reference 87

Pane M, Staccioli S, Messina S, D'Amico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battini R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E (2008) Daily salbutamol in young patients with SMA type II. Neuromuscul Disord 18 (7): 536-40

Reference 88

Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B (2008) De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 64 (2): 177-86

Reference 89

Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG (2008) Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat 29 (6): 809-22

Reference 90

Treves S, Jungbluth H, Muntoni F, Zorzato F (2008) Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 8 (3): 319-26

Reference 91

Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu 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 (2008) Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest 118 (3): 904-12

Reference 92

Reference 93

Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F (2008) Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol 65 (1): 137-41

Reference 94

McSweeney N, Cowan F, Manzur A, Robb S, Muntoni F (2009) Perinatal dyskinesia as a presenting feature in Prader Willi syndrome. Eur J Paediatr Neurol 13 (4): 350-5