Urtizberea, Jean Andoni M.

Top Publications

Top Publications Authored or Co-Authored by "Urtizberea, Jean Andoni M."

• Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

  Nature Genetics, Volume 26, No. 4, Year 2000, Citations 273
• C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

  Annals of Neurology, Volume 61, No. 4, Year 2007, Citations 222
• Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

  Brain, Volume 137, No. 1, Year 2014, Citations 149
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

  Brain, Volume 135, No. 9, Year 2012, Citations 116