| Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan C Longman, M Brockington, S Torelli, C Jimenez-Mallebrera, C Kennedy, ... Human molecular genetics 12 (21), 2853-2861, 2003 | 491 | 2003 |
| 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 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 182 | 2021 |
| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... The American Journal of Human Genetics 88 (2), 162-172, 2011 | 182 | 2011 |
| Fukutin gene mutations in steroid‐responsive limb girdle muscular dystrophy C Godfrey, D Escolar, M Brockington, EM Clement, R Mein, ... Annals of Neurology: Official Journal of the American Neurological …, 2006 | 180 | 2006 |
| GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction R Montero, D Yubero, J Villarroya, D Henares, C Jou, MA Rodríguez, ... PloS one 11 (2), e0148709, 2016 | 173 | 2016 |
| 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 |
| 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 |
| Congenital muscular dystrophy: molecular and cellular aspects C Jimenez-Mallebrera, SC Brown, CA Sewry, F Muntoni Cellular and Molecular Life Sciences CMLS 62, 809-823, 2005 | 154 | 2005 |
| Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a … SG Kalko, S Paco, C Jou, MA Rodríguez, M Meznaric, M Rogac, ... BMC genomics 15, 1-22, 2014 | 147 | 2014 |
| 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 |
| 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 C Jimenez-Mallebrera, MA Maioli, J Kim, SC Brown, L Feng, AK Lampe, ... Neuromuscular Disorders 16 (9-10), 571-582, 2006 | 112 | 2006 |
| Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant EM Clement, C Godfrey, J Tan, M Brockington, S Torelli, L Feng, ... Archives of Neurology 65 (1), 137-141, 2008 | 97 | 2008 |
| Deoxynucleoside therapy for thymidine kinase 2–deficient myopathy C Domínguez‐González, M Madruga‐Garrido, F Mavillard, C Garone, ... Annals of neurology 86 (2), 293-303, 2019 | 96 | 2019 |
| Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations V Guergueltcheva, JS Müller, M Dusl, J Senderek, A Oldfors, C Lindbergh, ... Journal of neurology 259, 838-850, 2012 | 95 | 2012 |
| Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance AK Lampe, Y Zou, D Sudano, KK O'brien, D Hicks, SH Laval, R Charlton, ... Human mutation 29 (6), 809-822, 2008 | 92 | 2008 |
| Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype E Mercuri, C Cini, A Pichiecchio, J Allsop, S Counsell, Z Zolkipli, ... Neuromuscular disorders 13 (7-8), 554-558, 2003 | 89 | 2003 |
| Congenital myopathies CA Sewry, C Jimenez-Mallebrera, F Muntoni Current opinion in neurology 21 (5), 569-575, 2008 | 85 | 2008 |
| Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders D Yubero, R Montero, MA Martín, J Montoya, A Ribes, M Grazina, ... Mitochondrion 30, 51-58, 2016 | 80 | 2016 |
| OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect K Thompson, N Mai, M Oláhová, F Scialó, LE Formosa, DA Stroud, ... EMBO Molecular Medicine 10 (11), e9060, 2018 | 73 | 2018 |
