Raducu, M.; Cotarelo, R.P.; Simón, R.; Camacho, A.; Rubio-Fernández, M.; Hernández-Laín, A.; Cruces, J. "Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.". J. Child Neurol.. 29(2): 289-294. (2014). (PMID: 24282183).
Cotarelo, R.P.; Fano, O.; Raducu, M.; Peña, A.; Tarilonte, P.; Mateos, F.; Simón, R.; Cabello, A.; Cruces, J. "A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families.". Clin. Genet.. 76(1): 108-112. (2009). (PMID: 19519795).
Cotarelo, R.P.; Valero, M.C.; Prados, B.; Peña, A.; Rodríguez, L.; Fano, O.; Marco, J.J.; Martínez-Frías, M.L.; Cruces, J. "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.". Clin. Genet.. 73(2): 139-145. (2008). (PMID: 18177472).
Prados, B.; Peña, A.; Cotarelo, R.P.; Valero, M.C.; Cruces, J. "Expression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndrome.". Am. J. Pathol.. 170(5): 1659-1668. (2007). (PMID: 17456771).
Instituto de Investigaciones Biomédicas "Alberto Sols"
C/Arturo Duperier 4. 28029 Madrid. (Spain)
Tel +(34) 91 585 4400 // Fax +(34) 91 558 4401 Email:Info