Jon Andoni Urtizberea
Sorbonne Université(FR)Center for the Study of Social Policy(US)Institut de Myologie(FR)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases, Cardiomyopathy and Myosin Studies, Hereditary Neurological Disorders
Most-Cited Works
- → A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva(2006)1,212 cited
- → Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy(1999)329 cited
- → Phenotypic Study in 40 Patients With Dysferlin Gene Mutations(2007)263 cited
- → C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy(2007)247 cited
- → A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients(1995)217 cited
- → Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy(2012)136 cited