| A dysfunctional desmin mutation in a patient with severe generalized myopathy AM Muñoz-Mármol, G Strasser, M Isamat, PA Coulombe, Y Yang, X Roca, ... Proceedings of the National Academy of Sciences 95 (19), 11312-11317, 1998 | 288 | 1998 |
| Assay of succinate dehydrogenase activity by a colorimetric-continuous method using iodonitrotetrazolium chloride as electron acceptor P Munujos, J Coll-Canti, F Gonzalez-Sastre Anal. Biochem 212, 506-509, 1993 | 147 | 1993 |
| Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle A Ariza, J Coll, MT Fernandez-Figueras, MD Lopez, JL Mate, O García, ... Human pathology 26 (9), 1032-1037, 1995 | 124 | 1995 |
| Central nervous system disease in Sjögren's syndrome D Escudero, P Latorre, M Codina, J Coll-Canti, J Coll Annales de médecine interne 146 (4), 239-242, 1995 | 83 | 1995 |
| Muscle MRI findings in childhood/adult onset pompe disease correlate with muscle function S Figueroa-Bonaparte, S Segovia, J Llauger, I Belmonte, I Pedrosa, ... PloS one 11 (10), e0163493, 2016 | 73 | 2016 |
| Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update A Santalla, G Nogales-Gadea, AB Encinar, I Vieitez, A González-Quintana, ... BMC genomics 18, 39-47, 2017 | 70 | 2017 |
| Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry. A Ramos‐Fransi, R García, Rojas‐Garcia, S Segovia, C Márquez‐Infante, ... European Journal of Neurology, 1-6, 2015 | 65 | 2015 |
| Amyotrophic lateral sclerosis in Catalonia: A population based study GLALSCAT Jesús Pradas, Teresa Puig, Ricard Rojas-García Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14 (4), 278-283, 2013 | 61 | 2013 |
| Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study S Figueroa-Bonaparte, J Llauger, S Segovia, I Belmonte, I Pedrosa, ... Scientific reports 8 (1), 10898, 2018 | 57 | 2018 |
| Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy. R Cervera, J Bruix, A Bayes, R Blesa, I Illa, J Coll, AM Garcia-Puges Gut 29 (4), 544-547, 1988 | 48 | 1988 |
| Tuberous sclerosis: a Golgi study of cortical tuber. I Ferrer, I Fabregues, J Coll, T Ribalta, A Rives Clinical Neuropathology 3 (2), 47-51, 1984 | 35 | 1984 |
| Exercise and preexercise nutrition as treatment for McArdle disease G Nogales-Gadea, A Santalla, A Ballester-Lopez, J Arenas, MA Martín, ... | 34 | 2016 |
| Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome A Blanco‐Grau, I Bonaventura‐Ibars, J Coll‐Cantí, MJ Melià, R Martinez, ... Genes, Brain and Behavior 12 (8), 812-820, 2013 | 32 | 2013 |
| Brain pyruvate oxidation in experimental thiamin-deficiency encephalopathy P Munujos, J Coll-Canti, J Beleta, F Gonzalez-Sastre, F Gella Clinica Chimica Acta 255 (1), 13-25, 1996 | 31 | 1996 |
| Genes and exercise intolerance: insights from McArdle disease G Nogales-Gadea, R Godfrey, A Santalla, J Coll-Cantí, G Pintos-Morell, ... Physiological genomics 48 (2), 93-100, 2016 | 29 | 2016 |
| Neuropathy due to necrotizing vasculitis: a study of the clinical anatomy, neurophysiological characteristics, and clinical course of the disorder in 27 patients J Sanchez, J Coll-Canti, A Ariza, A Olive, A Cuixart, J Teixido Revista de Neurologia 33 (11), 1033-1036, 2001 | 27* | 2001 |
| A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype A Ballester‐Lopez, E Koehorst, M Almendrote, A Martínez‐Piñeiro, ... Human mutation 41 (2), 420-431, 2020 | 25 | 2020 |
| Chloroquine-induced myopathy and neuropathy: progressive tetraparesis with areflexia that simulates a polyradiculoneuropathy. Two case reports JL Becerra-Cunat, J Coll-Cantí, E Gelpí-Mantius, X Ferrer-Avellí, ... Revista de neurologia 36 (6), 523-526, 2003 | 23* | 2003 |
| Identification of serum microRNAs as potential biomarkers in Pompe disease A Carrasco‐Rozas, E Fernández‐Simón, MC Lleixà, I Belmonte, ... Annals of Clinical and Translational Neurology 6 (7), 1214-1224, 2019 | 22 | 2019 |
| Different patterns of nicotinic acetylcholine receptor subunit transcription in human thymus R Bruno, L Sabater, E Tolosa, M Sospedra, X Ferrer-Francesch, J Coll, ... Journal of neuroimmunology 149 (1-2), 147-159, 2004 | 22 | 2004 |
Gisela Nogales-GadeaInstitut d'Investigació en Ciències de la Salut Germans Trias i PujolVerified email at igtp.cat
