Neuromuscular diseases

Neuromuscular diseases


Group members

Carmen Paradas López Principal Investigator  
Macarena Cabrera Serrano Neurologist, PhD, Faculty Staff  
Emilia Servián Morilla Biochemistry, PhD  
Fabiola Mavillard Saborido Biologist, PhD  
Gloria Cantero Nieto Biologist, PhD  
Eloy Rivas Infante Neuropathologist, Faculty Staff  
Iñigo Rojas-Marcos Neurologist, PhD, Faculty Staff  
Marcos Madruga Garrido Neuropediatrician, Faculty Staff  
Rainiero Ávila Polo Neuropathologist, Faculty Staff  

Research areas

Our group works applying molecular biology, cell culture, human genetics, animal models, and electrophysiology to study the pathomechanisms underlying the Neuromuscular Disorders and the function of the proteins associated to these diseases. We have developed in-vitro, ex-vivo and in-vivo assays to investigate the pathogenic hypothesis raising from the genetic findings in patients suffering from neuromuscular disorders, mainly focused on new genes and new mutations.

Specifically, the main lines of research are:

  1. Description of the knock-in mouse model of LGMD due to POGLUT1 mutations and therapeutic approach (founded by FIS PI16-01843)
  2. Role of the Notch signaling pathway protein in the maintenance of satellite cell pool in skeletal muscle and glycosylation of alpha-dystroglycan (founded by Consejería PI-0085-2016)
  3. Investigation of new genes and pathogenic mechanism involved in Neuromuscular Disorders, through next generation sequencing: studies of populations and individuals (founded by FIS PI16/00612)
  4. A precise approach for nucleoside-based therapy of neuromuscular disorders with defects in mitochondrial DNA (founded by FIS PMP15-00025)
  5. Cell therapy with mesenchimal cells in ALS patients. Phase I/II clinical trial (CeTMad/ELA/2011)
  6. Clinical outcome study for dysferlinopathy and role of proteosome in the degradation of mutated dysferlin protein (founded by Jain Foundation)

It has to be noticed that under Carmen Paradas´ coordination, the Unit of Neuromuscular Disorders of Hospital Universitario Virgen del Rocío/IBiS, to which this research group belongs, has been recently designated as National Reference Unit by the Spanish Ministry of Health (CSUR). In 2016, she was part of the European committee to elaborate the criteria for the European Reference Network (ERN) in Neuromuscular Disorders, and her Neuromuscular Unit, together with her research group, has been evaluated and designated part of this ERN (EURO-NMD). Altogether Carmen Paradas´ group is positioned in the first line at international level in the field of the Neuromuscular Disorders, at clinical and research level.


  • Daniel Sánchez-Gutiérrez, Aurora Sáez, Carmen Paradas, Luis M. Escudero.Rules of tissue packing involving different cell types: human muscle organization. Scientific Report 2017 Jan 10;7:40444
  • Emilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, Jordi Clarimon, Fabiola Mavillard, Estela Area-Gómez, Eloy Rivas, Jose L Nieto-González, Maria C Rivero, Macarena Cabrera, Leonardo Gómez-Sánchez, Jose A Martínez-López, Beatriz Estrada, Celedonio Márquez, Yolanda Morgado, Xavier Suárez-Calvet, Guillermo Pita, Eduard Gallardo, Rafael Fernández-Chacón, Michio Hirano, Robert S Haltiwanger, Hamed Jafar-Nejad, Carmen Paradas. A missense mutation in POGLUT1 causes recessive limb-girdle muscular dystrophy. EMBO Mol Med 2016 Nov 2;8(11):1289-1309
  • Paradas C, Akman O, Ionete C, Lau H, Riskind P, Jones D, Smith T, Hirano M, Dimauro s. Branching enzyme deficiency: expanding the clinical spectrum. JAMA Neurol 2014
  • Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, Dimauro S, Hirano M. Longitudinal Clinical Follow-up of a Large Family With the R357P Twinkle Mutation. JAMA Neurol. 2013 Sep 9
  • C. Paradas, P. Gutiérrez Ríos, E. Rivas, P. Carbonell, M. Hirano, S. DiMauro. TK2 mutation presenting as indolent myopathy. Neurology 2013 Jan 29;80(5):504-6
  • Paradas C., Morgado Y., Gallardo E., Juarez C., Rojas-García R. Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies. Muscle Nerve 2011; 44(5):839-41
  • C. Paradas ,J. Llauger, J. Diaz-Manera, R. Rojas-García, MD, N. De Luna, C. Iturriaga, C. Márquez, MD, M. Usón, K. Hankiewicz, E. Gallardo, I. Illa. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology 2010; Jul 27;75(4):316-23