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A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies
Scaglioni D, Ellis M, Catapano F, et al.
Acta neuropathologica communications, 2020, 8, 1, p 53
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy
Zhou H, Meng J, Malerba A, et al.
Journal of cachexia, sarcopenia and muscle, 2020
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2020, 27, 9, p 793
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva IT, Zaharieva IT, Sarkozy A, et al.
Human mutation, 2018, 39, 12, p 1980
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
Sarkozy A, Torelli S, Mein R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 7, p 762
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 793
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Zaharieva IT, Thor MG, Oates EC, et al.
Brain : a journal of neurology, 2016, 139, Pt3, p 674
Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations
Zhai L, Feng L, Xia L, et al.
Nature communications, 2016, 7
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Scalco RS, Gardiner AR, Pitceathly RD, et al.
Neuromuscular disorders : NMD, 2016, 26, 8, p 504
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
Humphrey EL, Lacey E, Le LT, et al.
Neuromuscular disorders : NMD, 2015, 25, 1, p 32
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping
Anthony K, Arechavala-Gomeza V, Ricotti V, et al.
JAMA Neurology, 2014, 71, 1, p. 32-40
Dystrophin quantification: Biological and translational research implications
Anthony K, Arechavala-Gomeza V, Taylor LE, et al.
Neurology, 2014, 83, 22, p 2062
Mechanical-stretch of C2C12 myoblasts inhibits expression of toll-like receptor 3 (TLR3) and of autoantigens associated with inflammatory myopathies
Chen R, Feng L, Ruan M, et al.
PLoS ONE, 2013, 8, 11, e79930, 9 p.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan
Stevens E, Carss KJ, Cirak S, et al.
American journal of human genetics (The), 2013, 92, 3, p. 354-365
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan
Carss KJ, Stevens E, Foley AR, et al.
UK10K Consortium
American journal of human genetics (The), 2013, 93, 1, p. 29-41
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling
Zhou H, Rokach O, Feng L, et al.
Human mutation, 2013, 34, 7, p 986
DOK7 congenital myasthenic syndrome in childhood : early diagnostic clues in 23 children
Klein A, Pitt MC, McHugh JC, et al.
Neuromuscular disorders : NMD, 2013, 23, 11, p. 883-891
Congenital myopathies - Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
Maggi L, Scoto M, Cirak S, et al.
Neuromuscular disorders : NMD, 2013, 23, 3, p. 195-205
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular dystrophy
Zaharieva IT, Calissano M, Scoto M, et al.
PLoS ONE, 2013, 8, 11, e80263, 15 p.
Restoration of the dystrophine-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy
Cirak S, Feng L, Anthony K, et al.
Molecular therapy, 2012, 20,2, p. 462-467
Flow cytometry analysis: A quantitative method for collagen VI deficiency screening
Kim J, Jimenez-Mallebrera C, Foley AR, et al.
Neuromuscular disorders : NMD, 2012, 22, 2, p. 139-148
Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
Clement EM, Feng L, Mein R, et al.
Neuromuscular disorders : NMD, 2012, 22, 6, p. 522-527
SEPN1-related myopathies. Clinical course in a large cohort of patients
Scoto M, Cirak S, Mein R, et al.
Neurology, 2011, 76, 24, p. 2073-2078
