Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores N Sambuughin, KS Yau, M Olivé, RM Duff, M Bayarsaikhan, S Lu, ... The American Journal of Human Genetics 87 (6), 842-847, 2010 | 178 | 2010 |
Myotilinopathy: refining the clinical and myopathological phenotype M Olivé, LG Goldfarb, A Shatunov, D Fischer, I Ferrer Brain 128 (10), 2315-2326, 2005 | 164 | 2005 |
Filamin C-related myopathies: pathology and mechanisms DO Fürst, LG Goldfarb, RA Kley, M Vorgerd, M Olivé, PFM van der Ven Acta neuropathologica 125, 33-46, 2013 | 149 | 2013 |
Intermediate filament diseases: desminopathy LG Goldfarb, M Olivé, P Vicart, HH Goebel The sarcomere and skeletal muscle disease, 131-164, 2008 | 142 | 2008 |
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies M Olivé, A Janué, D Moreno, J Gámez, B Torrejón-Escribano, I Ferrer Journal of Neuropathology & Experimental Neurology 68 (3), 262-273, 2009 | 109 | 2009 |
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy A Shatunov, M Olivé, Z Odgerel, C Stadelmann-Nessler, K Irlbacher, ... European journal of human genetics 17 (5), 656-663, 2009 | 92 | 2009 |
Molecular pathology of myofibrillar myopathies I Ferrer, M Olivé Expert reviews in molecular medicine 10, e25, 2008 | 90 | 2008 |
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations J Böhm, V Biancalana, E Malfatti, N Dondaine, C Koch, N Vasli, W Kress, ... Brain 137 (12), 3160-3170, 2014 | 89 | 2014 |
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy RA Kley, P Serdaroglu-Oflazer, Y Leber, Z Odgerel, PFM van der Ven, ... Brain 135 (9), 2642-2660, 2012 | 85 | 2012 |
New aspects of myofibrillar myopathies RA Kley, M Olivé, R Schröder Current Opinion in Neurology 29 (5), 628-634, 2016 | 69 | 2016 |
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient M Olivé, A Shatunov, L Gonzalez, O Carmona, D Moreno, LG Quereda, ... Neuromuscular Disorders 18 (12), 929-933, 2008 | 69 | 2008 |
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies M Olivé, FW Van Leeuwen, A Janué, D Moreno, B Torrejón‐Escribano, ... Neuropathology and applied neurobiology 34 (1), 76-87, 2008 | 65 | 2008 |
Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis N De Luna, X Suárez-Calvet, C Lleixà, J Diaz-Manera, M Olivé, I Illa, ... Scientific reports 7 (1), 8595, 2017 | 39 | 2017 |
Dilated Cardiomyopathy and Hydroxychloroquine-induced Phospholipidosis: From Curvilinear Bodies to Clinical Suspicion. F Di Girolamo, E Claver, M Olivé, J Salazar-Mendiguchía, N Manito, ... Revista Espanola de Cardiologia (English ed.) 71 (6), 491-493, 2017 | 12 | 2017 |
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period C Jimenez‐Mallebrera, A Nascimento, V Cusi, JR Corbera, MO Rolland, ... Histopathology 54 (6), 765-768, 2009 | 7 | 2009 |
Tau phosphorylation in myotilinopathies and desminopathies A Janué, M Olivé i Plana, IFA Ferrer The Open Pathology Journal, 2010, vol. 4, p. 1-10, 2010 | 4 | 2010 |
Registro español de la enfermedad de Pompe: Análisis de los primeros 49 pacientes con enfermedad de Pompe del adulto J Alonso-Pérez, S Segovia, C Domínguez-González, M Olivé, ... Medicina clínica 154 (3), 80-85, 2020 | 1 | 2020 |
Disorders Caused by Mutant Z‐disk Proteins M Olivé, I Ferrer, LG Goldfarb Muscle Disease: Pathology and Genetics, 163-170, 2013 | 1 | 2013 |
Myofibrillar myopathies M Olivé, RA Kley Neuromuscular imaging, 247-265, 2013 | 1 | 2013 |
Professor Isabel Illa (1952-2022) M Olivé, E Gallardo, L Querol, R Rojas, J Turon Neuromuscular Disorders 32 (5), 450, 2022 | | 2022 |