| Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of … M Kinali, V Arechavala-Gomeza, L Feng, S Cirak, D Hunt, C Adkin, ... The Lancet Neurology 8 (10), 918-928, 2009 | 884 | 2009 |
| Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ... Brain 130 (10), 2725-2735, 2007 | 463 | 2007 |
| Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle V Arechavala-Gomeza, IR Graham, LJ Popplewell, AM Adams, ... Human gene therapy 18 (9), 798-810, 2007 | 255 | 2007 |
| Fracture prevalence in Duchenne muscular dystrophy DGM McDonald, M Kinali, AC Gallagher, E Mercuri, F Muntoni, H Roper, ... Developmental medicine and child neurology 44 (10), 695-698, 2002 | 233 | 2002 |
| Update on the management of Duchenne muscular dystrophy AY Manzur, M Kinali, F Muntoni Archives of disease in childhood 93 (11), 986-990, 2008 | 215 | 2008 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 208 | 2019 |
| Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy E Mercuri, A Lampe, J Allsop, R Knight, M Pane, M Kinali, C Bonnemann, ... Neuromuscular Disorders 15 (4), 303-310, 2005 | 202 | 2005 |
| Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies H Zhou, H Jungbluth, CA Sewry, L Feng, E Bertini, K Bushby, V Straub, ... Brain 130 (8), 2024-2036, 2007 | 201 | 2007 |
| Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy E Mercuri, E Bertini, S Messina, A Solari, A D'amico, C Angelozzi, ... Neurology 68 (1), 51-55, 2007 | 200 | 2007 |
| Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures E Mercuri, K Bushby, E Ricci, D Birchall, M Pane, M Kinali, J Allsop, ... Neuromuscular Disorders 15 (2), 164-171, 2005 | 195 | 2005 |
| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation E Clement, E Mercuri, C Godfrey, J Smith, S Robb, M Kinali, V Straub, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 183 | 2008 |
| Pilot trial of phenylbutyrate in spinal muscular atrophy E Mercuri, E Bertini, S Messina, M Pelliccioni, A D'Amico, F Colitto, ... Neuromuscular Disorders 14 (2), 130-135, 2004 | 178 | 2004 |
| Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study STJ Ray, O Abdel-Mannan, M Sa, C Fuller, GK Wood, K Pysden, M Yoong, ... The Lancet Child & Adolescent Health 5 (9), 631-641, 2021 | 176 | 2021 |
| Natural history of Ullrich congenital muscular dystrophy A Nadeau, M Kinali, M Main, C Jimenez-Mallebrera, A Aloysius, ... Neurology 73 (1), 25-31, 2009 | 173 | 2009 |
| Muscle histology vs MRI in Duchenne muscular dystrophy M Kinali, V Arechavala-Gomeza, S Cirak, A Glover, M Guglieri, L Feng, ... Neurology 76 (4), 346-353, 2011 | 165 | 2011 |
| Congenital myasthenic syndromes in childhood: diagnostic and management challenges M Kinali, D Beeson, MC Pitt, H Jungbluth, AK Simonds, A Aloysius, ... Journal of neuroimmunology 201, 6-12, 2008 | 163 | 2008 |
| Feeding problems and malnutrition in spinal muscular atrophy type II S Messina, M Pane, P De Rose, I Vasta, D Sorleti, A Aloysius, F Sciarra, ... Neuromuscular Disorders 18 (5), 389-393, 2008 | 151 | 2008 |
| Pilot trial of albuterol in spinal muscular atrophy M Kinali, E Mercuri, M Main, F De Biasia, A Karatza, R Higgins, LM Banks, ... Neurology 59 (4), 609-610, 2002 | 145 | 2002 |
| Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery … E Mercuri, M Poppe, R Quinlivan, S Messina, M Kinali, L Demay, J Bourke, ... Archives of neurology 61 (5), 690-694, 2004 | 140 | 2004 |
| A comparative study of α‐dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of α‐dystroglycan does not consistently correlate with clinical … C Jimenez‐Mallebrera, S Torelli, L Feng, J Kim, C Godfrey, E Clement, ... Brain Pathology 19 (4), 596-611, 2009 | 133 | 2009 |
